Richard M. Durbin
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British computational biologist
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Why Is Richard M. Durbin Influential?
(Suggest an Edit or Addition)According to Wikipedia, Richard Michael Durbin is a British computational biologist and Al-Kindi Professor of Genetics at the University of Cambridge. He also serves as an associate faculty member at the Wellcome Sanger Institute where he was previously a senior group leader.
Richard M. Durbin's Published Works
Published Works
- The Sequence Alignment/Map format and SAMtools (2009) (42331)
- Fast and accurate short read alignment with Burrows–Wheeler transform (2009) (38298)
- Initial sequencing and analysis of the human genome. (2001) (15222)
- A global reference for human genetic variation (2015) (11857)
- The variant call format and VCFtools (2011) (9013)
- Fast and accurate long-read alignment with Burrows–Wheeler transform (2010) (8366)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- A map of human genome variation from population-scale sequencing (2010) (6496)
- Biological Sequence Analysis: Probabilistic Models of Proteins and Nucleic Acids (1998) (4580)
- Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry (2008) (3580)
- Systematic functional analysis of the Caenorhabditis elegans genome using RNAi (2003) (3497)
- Mapping short DNA sequencing reads and calling variants using mapping quality scores. (2008) (2894)
- The Pfam protein families database (2004) (2565)
- Pfam: clans, web tools and services (2005) (2262)
- Genome sequence of the Brown Norway rat yields insights into mammalian evolution (2004) (2053)
- GeneWise and Genomewise. (2004) (1930)
- Inference of human population history from individual whole-genome sequences. (2011) (1636)
- The Ensembl genome database project (2002) (1559)
- 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans (1994) (1449)
- Population genomics of domestic and wild yeasts (2008) (1405)
- Mouse genomic variation and its effect on phenotypes and gene regulation (2011) (1398)
- Pfam: A comprehensive database of protein domain families based on seed alignments (1997) (1221)
- The DNA sequence of human chromosome 22 (1999) (1117)
- EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. (2009) (1099)
- Reference-based phasing using the Haplotype Reference Consortium panel (2016) (1082)
- The DNA sequence of the human X chromosome (2005) (1072)
- The InterPro database, an integrated documentation resource for protein families, domains and functional sites (2001) (1061)
- The diploid genome sequence of an Asian individual (2008) (977)
- The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics (2003) (972)
- The UK10K project identifies rare variants in health and disease (2015) (926)
- Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing (2008) (879)
- RNA sequence analysis using covariance models. (1994) (851)
- Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes (2010) (811)
- Inferring human population size and separation history from multiple genome sequences (2014) (801)
- The Sequence Ontology: a tool for the unification of genome annotations (2005) (788)
- Pfam: multiple sequence alignments and HMM-profiles of protein domains (1998) (784)
- A dot-matrix program with dynamic threshold control suited for genomic DNA and protein sequence analysis. (1995) (772)
- Efficient de novo assembly of large genomes using compressed data structures. (2012) (769)
- Mapping cis- and trans-regulatory effects across multiple tissues in twins (2012) (754)
- The InterPro Database, 2003 brings increased coverage and new features (2003) (742)
- A large genome center's improvements to the Illumina sequencing system (2008) (722)
- Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species (2013) (702)
- Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses (2012) (688)
- Insights into hominid evolution from the gorilla genome sequence (2012) (670)
- Ensembl 2012 (2011) (648)
- A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis (2008) (647)
- WormBase: a multi-species resource for nematode biology and genomics (2004) (644)
- The complete sequence of a human genome (2021) (622)
- BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals (2008) (619)
- Ensembl 2009 (2008) (575)
- InterPro, progress and status in 2005 (2004) (573)
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. (2009) (569)
- Towards complete and error-free genome assemblies of all vertebrate species (2020) (557)
- Ensembl 2007 (2006) (553)
- DNA sequence and analysis of human chromosome 9 (2003) (548)
- Assemblathon 1: a competitive assessment of de novo short read assembly methods. (2011) (542)
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. (2017) (541)
- Identifying and removing haplotypic duplication in primary genome assemblies (2019) (538)
- Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform (2009) (535)
- Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins (1999) (532)
- Systematic Analysis of Human Protein Complexes Identifies Chromosome Segregation Proteins (2010) (493)
- Earth BioGenome Project: Sequencing life for the future of life (2018) (492)
- Ensembl 2011 (2010) (482)
- Revising the human mutation rate: implications for understanding human evolution (2012) (478)
- Patterns of Cis Regulatory Variation in Diverse Human Populations (2012) (470)
- The C. elegans genome sequencing project: a beginning (1992) (462)
- An overview of Ensembl. (2004) (462)
- The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study (2011) (460)
- Product Units: A Computationally Powerful and Biologically Plausible Extension to Backpropagation Networks (1989) (453)
- Dindel: accurate indel calls from short-read data. (2011) (450)
- A dimension reduction framework for understanding cortical maps (1990) (444)
- A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies (2010) (428)
- Genomic evidence for the Pleistocene and recent population history of Native Americans (2015) (428)
- TreeFam: a curated database of phylogenetic trees of animal gene families (2005) (406)
- Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture (2015) (399)
- Common genetic variation drives molecular heterogeneity in human iPSCs (2017) (397)
- BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data (2016) (396)
- Inference of Human Population History From Whole Genome Sequence of A Single Individual (2011) (396)
- Using GeneWise in the Drosophila annotation experiment. (2000) (384)
- WormBase: a comprehensive resource for nematode research (2009) (383)
- InterPro: An Integrated Documentation Resource for Protein Families, Domains and Functional Sites (2002) (376)
- Ensembl 2008 (2007) (362)
- Insights into human genetic variation and population history from 929 diverse genomes (2019) (356)
- A genomic history of Aboriginal Australia (2016) (355)
- Backpropagation: the basic theory (1995) (352)
- WormBase: network access to the genome and biology of Caenorhabditis elegans (2001) (350)
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population (2014) (348)
- Variation graph toolkit improves read mapping by representing genetic variation in the reference (2018) (338)
- A survey of expressed genes in Caenorhabditis elegans (1992) (336)
- Efficient haplotype matching and storage using the positional Burrows–Wheeler transform (PBWT) (2014) (333)
- Ensembl’s 10th year (2009) (321)
- TreeFam: 2008 Update (2007) (302)
- QuickTree: building huge Neighbour-Joining trees of protein sequences (2002) (298)
- Trait Variation in Yeast Is Defined by Population History (2011) (297)
- Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
- The computing neuron (1989) (294)
- Genomic islands of speciation separate cichlid ecomorphs in an East African crater lake (2015) (294)
- The DNA sequence and comparative analysis of human chromosome 20 (2004) (280)
- Maximum Discrimination Hidden Markov Models of Sequence Consensus (1995) (278)
- Did Our Species Evolve in Subdivided Populations across Africa, and Why Does It Matter? (2018) (276)
- Ensembl 2005 (2004) (274)
- Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat (1994) (269)
- The DNA sequence and analysis of human chromosome 6 (2003) (266)
- Whole-genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow (2018) (263)
- A High-Definition View of Functional Genetic Variation from Natural Yeast Genomes (2014) (258)
- Ensembl 2002: accommodating comparative genomics (2003) (257)
- Efficient construction of an assembly string graph using the FM-index (2010) (256)
- Ensembl 2006 (2005) (255)
- The first horse herders and the impact of early Bronze Age steppe expansions into Asia (2018) (243)
- Health and population effects of rare gene knockouts in adult humans with related parents (2015) (242)
- Contrasting evolutionary genome dynamics between domesticated and wild yeasts (2017) (242)
- Revealing the genetic structure of a trait by sequencing a population under selection. (2011) (240)
- Gene expression changes with age in skin, adipose tissue, blood and brain (2013) (237)
- Comparative analysis of noncoding regions of 77 orthologous mouse and human gene pairs. (1999) (212)
- WormBase: a comprehensive data resource for Caenorhabditis biology and genomics (2004) (209)
- The Pfam protein families database. (2004) (204)
- WormBase 2012: more genomes, more data, new website (2011) (198)
- Prepublication data sharing (2009) (190)
- An organelle-specific protein landscape identifies novel diseases and molecular mechanisms (2016) (189)
- Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins (2014) (183)
- A federated ecosystem for sharing genomic, clinical data (2016) (177)
- Biological sequence analysis: Background on probability (1998) (172)
- The DNA sequence and biological annotation of human chromosome 1 (2006) (166)
- The Pfam Protein Families Database (2002) (166)
- Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 (2016) (159)
- A computational scan for U12-dependent introns in the human genome sequence. (2001) (157)
- High levels of RNA-editing site conservation amongst 15 laboratory mouse strains (2012) (157)
- InterPro--an integrated documentation resource for protein families, domains and functional sites. (2000) (157)
- The genomic and phenotypic diversity of Schizosaccharomyces pombe (2015) (152)
- SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples. (2011) (148)
- Dynamic programming alignment accuracy (1998) (144)
- Iron Age and Anglo-Saxon genomes from East England reveal British migration history (2015) (144)
- Comparative ab initio prediction of gene structures using pair HMMs (2002) (141)
- Analysis of protein domain families in Caenorhabditis elegans. (1997) (141)
- Software for genome mapping by fingerprinting techniques (1988) (139)
- Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians (2015) (138)
- The population history of northeastern Siberia since the Pleistocene (2019) (138)
- Extending reference assembly models (2015) (138)
- Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes (2020) (134)
- Differential methylation of the TRPA1 promoter in pain sensitivity (2014) (133)
- Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport (2016) (131)
- Comparative sequence analysis of the human and pufferfish Huntington's disease genes (1995) (130)
- Dynamite: A Flexible Code Generating Language for Dynamic Programming Methods Used in Sequence Comparison (1997) (130)
- WormBase: a cross-species database for comparative genomics (2003) (129)
- A workbench for large-scale sequence homology analysis (1994) (129)
- Estimating telomere length from whole genome sequence data (2014) (129)
- De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms (2017) (127)
- The DNA sequence and biological annotation of human chromosome 1 (2006) (127)
- Ensembl 2004 (2004) (123)
- Sixteen diverse laboratory mouse reference genomes define strain specific haplotypes and novel functional loci (2018) (122)
- Genetic interactions affecting human gene expression identified by variance association mapping (2014) (122)
- Mapping trait loci by use of inferred ancestral recombination graphs. (2006) (120)
- Optimal numberings of an N N array (1986) (118)
- X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 (2017) (117)
- High-Resolution Mapping of Complex Traits with a Four-Parent Advanced Intercross Yeast Population (2013) (116)
- Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits (2017) (110)
- GAZE: a generic framework for the integration of gene-prediction data by dynamic programming. (2002) (108)
- Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) (2001) (106)
- WormBase: new content and better access (2006) (102)
- YaHS: yet another Hi-C scaffolding tool (2022) (101)
- Biological sequence analysis: Preface (1998) (100)
- WormBase: better software, richer content (2005) (100)
- Image analysis of restriction enzyme fingerprint autoradiograms (1989) (97)
- Gene structure conservation aids similarity based gene prediction. (2004) (95)
- A High-Quality De novo Genome Assembly from a Single Mosquito Using PacBio Sequencing (2018) (93)
- Clustering of phosphorylation site recognition motifs can be exploited to predict the targets of cyclin-dependent kinase (2007) (92)
- MitoHiFi: a python pipeline for mitochondrial genome assembly from PacBio High Fidelity reads (2023) (90)
- Whole-genome sequence-based analysis of thyroid function (2015) (89)
- DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. (2016) (88)
- Transposon Tc1-derived, sequence-tagged sites in Caenorhabditis elegans as markers for gene mapping. (1996) (87)
- Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) (86)
- The population history of northeastern Siberia since the Pleistocene (2018) (85)
- ACeDB and macace. (1995) (79)
- Efficiently inferring the demographic history of many populations with allele count data (2018) (78)
- TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. (2016) (77)
- Joint Genetic Analysis of Gene Expression Data with Inferred Cellular Phenotypes (2011) (76)
- The DNA sequence and analysis of human chromosome 13 (2004) (75)
- A systematic comparative and structural analysis of protein phosphorylation sites based on the mtcPTM database (2007) (75)
- The Pfam protein families database (2007) (72)
- Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes (2017) (72)
- Regulatory evolution in proteins by turnover and lineage-specific changes of cyclin-dependent kinase consensus sites (2007) (71)
- A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
- A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
- Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. (2016) (67)
- No evidence for maintenance of a sympatric Heliconius species barrier by chromosomal inversions (2017) (66)
- Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (66)
- Enhanced protein domain discovery by using language modeling techniques from speech recognition (2003) (65)
- The DNA sequence and comparative analysis of human chromosome 10 (2004) (65)
- The ACEDB genome database (1994) (62)
- Ancestral Hybridization Facilitated Species Diversification in the Lake Malawi Cichlid Fish Adaptive Radiation (2019) (61)
- Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom (2016) (61)
- Detecting archaic introgression using an unadmixed outgroup (2018) (59)
- Haplotype-aware graph indexes (2018) (58)
- The Earth BioGenome Project 2020: Starting the clock (2022) (58)
- Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations (2017) (57)
- A probabilistic model of 3' end formation in Caenorhabditis elegans. (2004) (57)
- Quantitative Genetics of CTCF Binding Reveal Local Sequence Effects and Different Modes of X-Chromosome Association (2014) (56)
- The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X (2001) (54)
- Alfresco--a workbench for comparative genomic sequence analysis. (2000) (54)
- WormBase (2012) (54)
- Copy number variant detection in inbred strains from short read sequence data (2009) (52)
- Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. (2015) (50)
- Extent, Causes, and Consequences of Small RNA Expression Variation in Human Adipose Tissue (2012) (49)
- Managing clinically significant findings in research: the UK10K example (2014) (45)
- A graph-based approach to diploid genome assembly (2018) (44)
- A high-content platform to characterise human induced pluripotent stem cell lines (2016) (44)
- Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
- Complete vertebrate mitogenomes reveal widespread repeats and gene duplications (2021) (41)
- Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels (2009) (41)
- Late Quaternary dynamics of Arctic biota from ancient environmental genomics (2021) (41)
- Bounds on the learning capacity of some multi-layer networks (1989) (39)
- Tree-based maximal likelihood substitution matrices and hidden Markov models (1995) (39)
- Tc7, a Tc1-hitch hiking transposon in Caenorhabditis elegans. (1997) (35)
- Accounting for Non-genetic Factors Improves the Power of eQTL Studies (2008) (34)
- Identity-by-Descent-Based Phasing and Imputation in Founder Populations Using Graphical Models (2011) (34)
- Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis (2019) (31)
- Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes (2020) (31)
- Improved techniques for the identification of pseudogenes (2004) (30)
- The anatomy of successful computational biology software (2013) (29)
- Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors (2019) (29)
- Homozygous loss-of-function variants in European cosmopolitan and isolate populations (2015) (26)
- A Genome-Wide Survey of Genetic Variation in Gorillas Using Reduced Representation Sequencing (2013) (25)
- Why sequence all eukaryotes? (2022) (25)
- YFitter: Maximum likelihood assignment of Y chromosome haplogroups from low-coverage sequence data (2014) (24)
- Whole-exome sequencing of 228 patients with sporadic Parkinson’s disease (2017) (24)
- Estimation of Epistatic Variance Components and Heritability in Founder Populations and Crosses (2014) (24)
- Enhanced protein domain discovery using taxonomy (2004) (23)
- Gene expression and development databases forC. elegans (1997) (22)
- Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
- Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
- A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data (2016) (22)
- Sequence variation aware genome references and read mapping with the variation graph toolkit (2017) (22)
- A haplotype-aware de novo assembly of related individuals using pedigree sequence graph (2019) (20)
- Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes (2016) (20)
- Sequence assembly with CAFTOOLS. (1998) (20)
- Common genetic variation drives molecular heterogeneity in human iPSCs (2016) (19)
- Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph (2019) (19)
- The DNA sequence and biological annotation of human chromosome 1 (vol 441, pg 315, 2006) (2006) (18)
- Environmental genomics of Late Pleistocene black bears and giant short-faced bears (2021) (18)
- Genome Graphs (2017) (18)
- A high-quality, chromosome-level genome assembly of the Black Soldier Fly (Hermetia illucens L.) (2020) (18)
- Vertebrate gene finding from multiple-species alignments using a two-level strategy (2006) (18)
- False gene and chromosome losses affected by assembly and sequence errors (2021) (17)
- Method for Calculation of Probability of Matching a Bounded Regular Expression in a Random Data String (1995) (17)
- Mapping short DNA sequencing reads and variants calling using mapping quality scores ( Supplementary Text ) (2008) (16)
- Standards recommendations for the Earth BioGenome Project (2022) (16)
- Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells (2021) (16)
- trio-sga: facilitating de novo assembly of highly heterozygous genomes with parent-child trios (2016) (16)
- Crumble: reference free lossy compression of sequence quality values (2018) (16)
- Genomix: a method for combining gene-finders' predictions, which uses evolutionary conservation of sequence and intron-exon structure (2007) (16)
- Whole-genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow (2017) (15)
- A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning (2020) (15)
- Population Genomics of Stone Age Eurasia (2022) (15)
- The rate of false polymorphisms introduced when imputing genotypes from global imputation panels (2016) (15)
- souporcell: Robust clustering of single cell RNAseq by genotype and ambient RNA inference without reference genotypes (2019) (14)
- A Table-Driven, Full-Sensitivity Similarity Search Algorithm (2003) (13)
- Mapping epigenetic divergence in the massive radiation of Lake Malawi cichlid fishes (2020) (13)
- Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph (2020) (13)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- Inferring Selection on Amino Acid Preference in Protein Domains (2008) (13)
- An Expert System for Processing Sequence Homology Data (1994) (12)
- Whole genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene (2018) (12)
- A 2-million-year-old ecosystem in Greenland uncovered by environmental DNA (2022) (12)
- Genomic consequences of domestication of the Siamese fighting fish (2021) (12)
- Multiple laboratory mouse reference genomes define strain specific haplotypes and novel functional loci (2018) (11)
- Revising the human mutation rate: implications for understanding human evolution (2012) (11)
- Biological sequence analysis: Markov chains and hidden Markov models (1998) (11)
- A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals (2016) (11)
- Placing Ancient DNA Sequences into Reference Phylogenies (2020) (11)
- Learning from your neighbour (1992) (11)
- A high resolution integrated yeast artificial chromosome clone map of human chromosome 22. (1995) (10)
- Whole-exome sequencing in an isolated population from the Dalmatian island of Vis (2016) (10)
- Ethical, legal, and social issues in the Earth BioGenome Project (2021) (10)
- Erratum: WormBase: Network access to the genome and biology of Caenorhabditis elegans (Nucleic Acids Research (2001) vol. 29 (82-86)) (2001) (10)
- Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (9)
- The genome sequence of the channel bull blenny, Cottoperca gobio (Günther, 1861) (2020) (9)
- WormBase: Annotating many nematode genomes. (2012) (9)
- The genome sequence of the brown trout, Salmo trutta Linnaeus 1758 (2021) (9)
- Genomics of cold adaptations in the Antarctic notothenioid fish radiation (2022) (9)
- A conserved sequence motif in 3' untranslated regions of ribosomal protein mRNAs in nematodes. (2006) (8)
- read sequencing De novo assembly of human genomes with massively parallel short (2013) (8)
- Base qualities help sequencing software. (1998) (8)
- Pathway-Based Factor Analysis of Gene Expression Data Produces Highly Heritable Phenotypes That Associate with Age (2015) (8)
- Complete vertebrate mitogenomes reveal widespread gene duplications and repeats (2020) (7)
- Differential use of multiple genetic sex determination systems in divergent ecomorphs of an African crater lake cichlid (2021) (7)
- False gene and chromosome losses in genome assemblies caused by GC content variation and repeats (2022) (6)
- Efficient iterative Hi-C scaffolder based on N-best neighbors (2021) (6)
- On the correspondence between network models and the nervous system (1989) (6)
- Product Units with Trainable Exponents and Multi-Layer Networks (1989) (5)
- Biological sequence analysis: Building phylogenetic trees (1998) (5)
- The genome sequence of the eastern grey squirrel, Sciurus carolinensis Gmelin, 1788 (2020) (5)
- Biological sequence analysis: Pairwise alignment (1998) (5)
- Epigenetic divergence during early stages of speciation in an African crater lake cichlid fish (2021) (5)
- Erratum: BAC TransgeneOmics: A high-throughput method for exploration of protein function in mammals (Nature Methods (2008) vol. 5 (409-415)) (2008) (5)
- Contrasting genome dynamics between domesticated and wild yeasts (2016) (4)
- Common genetic variation drives molecular heterogeneity in human iPSCs (vol 546, pg 370, 2017) (2017) (4)
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly (2016) (4)
- The genome sequence of the Eurasian red squirrel, Sciurus vulgaris Linnaeus 1758 (2020) (4)
- APPENDIX 2 Neuroanatomy (1988) (4)
- Detecting archaic introgression without archaic reference genomes (2018) (4)
- Abbreviations: ModENCODE, Model Organism Database ENCyclopedia Of DNA Elements; EST, Expressed Sequence Tag; cDNA, complementary DNA; RNASeq, RNA sequencing by 2nd generation technologies; C., Caenorhabditis; INSDC, International Nucleotide Sequence Database Collaboration (2012) (3)
- Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (3)
- A haplotype-aware de novo assembly of related individuals using pedigree graph (2019) (3)
- Fast and Scalable Genome-Wide Inference of Local Tree Topologies from Large Number of Haplotypes Based on Tree Consistent 𝒫ℬ𝒲𝒯 Data Structure (2019) (3)
- High levels of RNA-editing site conservation amongst 15 laboratory mouse strains (2012) (3)
- Biological sequence analysis: RNA structure analysis (1998) (3)
- Biological sequence analysis: Profile HMMs for sequence families (1998) (3)
- Biological sequence analysis: Probabilistic approaches to phylogeny (1998) (3)
- Viral coinfection analysis using a MinHash toolkit (2019) (3)
- Biological sequence analysis: Pairwise alignment using HMMs (1998) (3)
- The Selection Landscape and Genetic Legacy of Ancient Eurasians (2022) (3)
- The genome sequence of the ringlet, Aphantopus hyperantus Linnaeus 1758 (2021) (3)
- The genome sequence of the European golden eagle, Aquila chrysaetos chrysaetos Linnaeus 1758 (2021) (2)
- Gene expression changes with age in skin, adipose tissue, blood and brain (2013) (2)
- Complete vertebrate mitogenomes reveal widespread repeats and gene duplications (2021) (2)
- GFAKluge: A C++ library and command line utilities for the Graphical Fragment Assembly formats (2019) (2)
- The genome sequence of the Eurasian river otter, Lutra lutra Linnaeus 1758 (2020) (2)
- Invited Lecture - Accelerating Smith-Waterman Searches (2002) (2)
- Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
- Purging of deleterious variants in Italian founder populations with extended autozygosity (2015) (2)
- Evolutionary genomics at the human-environment interface in Africa. (2020) (1)
- The methylomes of Lake Malawi cichlids reveal epigenetic variation associated with phenotypic diversification (2020) (1)
- High-resolution species assignment of Anopheles mosquitoes using k-mer distances on targeted sequences (2022) (1)
- Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
- The Genome 10K Project: A Way Forward Further (2015) (1)
- MSPcrunch: a blast enhancement tool for large-scale sequence similarity analysis (1997) (1)
- Biological sequence analysis: Multiple sequence alignment methods (1998) (1)
- Identifying the genetic basis of variation in cell behaviour in human iPS cell lines from healthy donors (2018) (1)
- Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2015) (1)
- Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity (2015) (1)
- Acedb genome database (2005) (1)
- Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (2022) (1)
- Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions (2014) (1)
- Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants (2015) (1)
- Erratum: Whole-genome sequence-based analysis of thyroid function (2015) (1)
- Ultra-fast genome-wide inference of pairwise coalescence times (2023) (1)
- Erratum: The anatomy of successful computational biology software (2014) (1)
- State Space and Unobserved Component Models: Finding genes in the human genome with hidden Markov models (2004) (1)
- Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (1)
- Tree consistent PBWT and their application to reconstructing Ancestral Recombination Graphs and demographic inference (2015) (1)
- Author Correction: Late Quaternary dynamics of Arctic biota from ancient environmental genomics (2022) (1)
- OCTOBASE: ACEDB implementation of human chromosome 8 (1994) (1)
- Interpreting the Human Genome Sequence, Using Stochastic Grammars (2001) (1)
- Biological sequence analysis: Introduction (1998) (1)
- Ecological Speciation Promoted by Divergent Regulation of Functional Genes Within African Cichlid Fishes (2022) (1)
- First chromosome scale genomes of ithomiine butterflies (Nymphalidae: Ithomiini): Comparative models for mimicry genetic studies (2022) (0)
- Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes (2020) (0)
- The Hypolimnas misippus genome supports a common origin of the W chromosome in Lepidoptera (2023) (0)
- Biological sequence analysis: Transformational grammars (1998) (0)
- Correction: Quantitative Genetics of CTCF Binding Reveal Local Sequence Effects and Different Modes of X-Chromosome Association (2015) (0)
- A theoretical analysis of taxonomic binning accuracy (2022) (0)
- Three sequential sex chromosome – autosome fusions in Heliconius butterflies (2023) (0)
- Neural networks. Learning from your neighbour. (1992) (0)
- BIOINFORMATICS The Sequence Alignment/Map format and SAMtools (0)
- Genome sequence assembly evaluation using long-range sequencing data (2022) (0)
- Haplotype-specific recombination shapes the genealogy of ancestral European haplotypes (2008) (0)
- Opinion Did Our Species Evolve in Subdivided Populations across Africa , and Why Does It Matter ? (0)
- De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms (2017) (0)
- Biological sequence analysis: Bibliography (1998) (0)
- Correction to: Efficient iterative Hi-C scaffolder based on N-best neighbors (2021) (0)
- Contrasting genome dynamics between domesticated 1 and wild yeasts 2 3 (2016) (0)
- Explorer Mouse genomic variation and its effect on phenotypes and gene regulation (2017) (0)
- Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci (2018) (0)
- Probabilities and probabilistic models (2002) (0)
- Recombination Suppression is Unlikely to Contribute to Speciation in Sympatric Heliconius Butterflies (2016) (0)
- Whole-genome sequencing identifies non-coding variants near EN 1 with large effects on bone mineral density (2014) (0)
- Viral coinfection analysis using a MinHash toolkit (2019) (0)
- Correction to: A haplotype-resolved, de novo genome assembly for the wood tiger moth (Arctia plantaginis) through trio binning (2021) (0)
- S.2518 - 115th Congress (2017-2018): A bill to amend title 11, United States Code, to improve protections for employees and retirees in business bankruptcies. (2018) (0)
- Reply to: When did mammoths go extinct? (2022) (0)
- Cortical maps (1990) (0)
- Corrigendum (2021) (0)
- Author Correction: Late Quaternary dynamics of Arctic biota from ancient environmental genomics (2022) (0)
- S.2724 - 115th Congress (2017-2018): A bill to reform the use of solitary confinement and other forms of restrictive housing in the Bureau of Prisons, and for other purposes. (2018) (0)
- H.R.3906 - Energy and Environmental Security Act of 1990 (1990) (0)
- S.Res.535 - 115th Congress (2017-2018): A resolution reaffirming the United States commitment to the North Atlantic Treaty Organization. (2018) (0)
- H.R.160 - To amend the Federal Aviation Act of 1958 to make permanent the prohibition against smoking on scheduled flights of 2 hours or less in duration. (1989) (0)
- Efficient iterative Hi-C scaffolder based on N-best neighbors (2021) (0)
- Author response: Population-scale proteome variation in human induced pluripotent stem cells (2020) (0)
- Erratum (2004) (0)
- S.2119 - 115th Congress (2017-2018): A bill to amend title 38, United States Code, to prohibit smoking in any facility of the Veterans Health Administration, and for other purposes. (2017) (0)
- Revised SOM 06.24.2015 (2015) (0)
- S.Res.179 - 115th Congress (2017-2018): A resolution expressing support for the designation of June 2, 2017, as "National Gun Violence Awareness Day" and June 2017 as "National Gun Violence Awareness Month". (2017) (0)
- S.2535 - 115th Congress (2017-2018): A bill to amend the Controlled Substances Act to strengthen Drug Enforcement Administration discretion in setting opioid quotas. (2018) (0)
- Author Correction: Late Quaternary dynamics of Arctic biota from ancient environmental genomics (2022) (0)
- S.2785 - 115th Congress (2017-2018): A bill to designate foreign persons who improperly interfere in United States elections as inadmissible aliens, and for other purposes. (2018) (0)
- S.2328 - 115th Congress (2017-2018): A bill making continuing appropriations for military pay and death benefits in the event of a Government shutdown. (2018) (0)
- S.2830 - 115th Congress (2017-2018): A bill to reauthorize the rural emergency medical services training and equipment assistance program under section 330J of the Public Health Service Act. (2018) (0)
- Biomarkers of skin ageing using genome wide transcriptomics (2011) (0)
- Supplement to: Haplotype-aware graph indexes (2019) (0)
- Abstract 3570: Germline structural variant detection with variation graphs (2017) (0)
- Whole-genome sequence-based analysis of thyroid function (vol 6, 5681, 2015) (2015) (0)
- Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes (2020) (0)
- multiple genome sequences Inferring human population size and separation history from (2014) (0)
- Running title : Covariance models of RNA RNA Sequence Analysis Using Covariance Models (1998) (0)
- TOWARDS A FULLY INTEGRATED, HIGH-RESOLUTION PHYSICAL MAP OF CHROMOSOME-22 (1994) (0)
- Local Ancestry Inference for Complex Population Histories (2023) (0)
- 1 Backpropagation : The Basic Theory (2008) (0)
- Whole-genome sequencing and deep imputation identifies non-coding variants near Engrailed-1 with large effects on bone mineral density and fracture (2015) (0)
- Extending reference assembly models (2015) (0)
- Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes (2017) (0)
- Nematode C. elegans, Nervous System (1988) (0)
- A surfeit of models (2002) (0)
- Author response: Genetic interactions affecting human gene expression identified by variance association mapping (2014) (0)
- The ACEDB genome database:support for large scale sequencing projects (1993) (0)
- [X]uniqMAP: unique gene sequence regions in the human and mouse genomes (2006) (0)
- Abstract 3273: rkmh: A MinHash toolbox for analyzing HPV coinfections (2018) (0)
- BIOL 495S/ CS 490B/ MATH 490B/ STAT 490B (2002) (0)
- Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
- Caecilian genomes reveal the molecular basis of adaptation, and convergent evolution of limblessness in snakes and caecilians (2023) (0)
- Lepidoptera genomics based on 88 chromosomal reference sequences informs population genetic parameters for conservation (2023) (0)
- Applying Large-Scale Genetic and Genomic Datasets to Complex Disease Association (2010) (0)
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