Ewan Birney

Q: What Schools Are Affiliated With Ewan Birney

Ewan Birney is affiliated with the following schools: Institute of Cancer Research, University of Oxford, Baylor College of Medicine, Johns Hopkins University, University of Washington, Virginia Tech

Ewan Birney's AcademicInfluence.com Rankings

Ewan Birney

Biology

#291

World Rank

#529

Historical Rank

Bioinformatics

World Rank

Historical Rank

biology Degrees

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Biology

Ewan Birney's Degrees

Bachelors Biochemistry University of Oxford

Why Is Ewan Birney Influential?

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According to Wikipedia, John Frederick William Birney is joint director of EMBL's European Bioinformatics Institute , in Hinxton, Cambridgeshire and deputy director general of the European Molecular Biology Laboratory . He also serves as non-executive director of Genomics England, chair of the Global Alliance for Genomics and Health and honorary professor of bioinformatics at the University of Cambridge. Birney has made significant contributions to genomics, through his development of innovative bioinformatics and computational biology tools. He previously served as an associate faculty member at the Wellcome Trust Sanger Institute.

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Ewan Birney's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Initial sequencing and analysis of the human genome. (2001) (15222)
Velvet: algorithms for de novo short read assembly using de Bruijn graphs. (2008) (9388)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
Initial sequencing and comparative analysis of the mouse genome. (2002) (4609)
A Draft Sequence of the Neandertal Genome (2010) (3419)
Patterns of somatic mutation in human cancer genomes (2007) (3038)
Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt (2009) (2461)
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (2004) (2417)
The ENCODE (ENCyclopedia Of DNA Elements) Project (2004) (2194)
Automated generation of heuristics for biological sequence comparison (2005) (2110)
An integrated encyclopedia of DNA elements in the human genome (2012) (2080)
Genome sequence of the Brown Norway rat yields insights into mammalian evolution (2004) (2053)
The Genome Sequence of the Malaria Mosquito Anopheles gambiae (2002) (2020)
GeneWise and Genomewise. (2004) (1930)
International network of cancer genome projects (2010) (1839)
The Bioperl toolkit: Perl modules for the life sciences. (2002) (1700)
Landscape of somatic mutations in 560 breast cancer whole genome sequences (2016) (1574)
The genomic basis of adaptive evolution in threespine sticklebacks (2012) (1560)
The Ensembl genome database project (2002) (1559)
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs (2002) (1543)
A User's Guide to the Encyclopedia of DNA Elements (ENCODE) (2011) (1467)
Reactome: a database of reactions, pathways and biological processes (2010) (1462)
Oases: robust de novo RNA-seq assembly across the dynamic range of expression levels (2012) (1405)
Mouse genomic variation and its effect on phenotypes and gene regulation (2011) (1398)
Reactome: a knowledgebase of biological pathways (2004) (1353)
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome (2007) (1309)
The Human Cell Atlas (2017) (1285)
Genome Sequence of Aedes aegypti, a Major Arbovirus Vector (2007) (1110)
EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates. (2009) (1099)
A high-resolution map of human evolutionary constraint using 29 mammals (2011) (1081)
The InterPro database, an integrated documentation resource for protein families, domains and functional sites (2001) (1061)
Ensembl 2016 (2015) (1056)
Highly accurate protein structure prediction for the human proteome (2021) (1032)
Comparative genomics of the eukaryotes. (2000) (1031)
A small-cell lung cancer genome with complex signatures of tobacco exposure (2010) (1031)
Reactome knowledgebase of human biological pathways and processes (2008) (981)
The UK10K project identifies rare variants in health and disease (2015) (926)
Immunity-Related Genes and Gene Families in Anopheles gambiae (2002) (909)
Ensembl 2014 (2013) (845)
AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models (2021) (831)
Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors (2012) (817)
Pfam: multiple sequence alignments and HMM-profiles of protein domains (1998) (784)
Towards practical, high-capacity, low-maintenance information storage in synthesized DNA (2013) (776)
Ensembl 2015 (2014) (751)
The International Protein Index: An integrated database for proteomics experiments (2004) (746)
Genome analysis of the platypus reveals unique signatures of evolution (2008) (711)
Analysis of the RNA-recognition motif and RS and RGG domains: conservation in metazoan pre-mRNA splicing factors. (1993) (671)
Reactome: a knowledge base of biologic pathways and processes (2007) (667)
Ensembl 2013 (2012) (663)
Ensembl 2012 (2011) (648)
A Bayesian deconvolution strategy for immunoprecipitation-based DNA methylome analysis (2008) (647)
Defining functional DNA elements in the human genome (2014) (647)
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures (2017) (644)
BioPAX – A community standard for pathway data sharing (2010) (594)
The European Nucleotide Archive (2010) (584)
Ensembl 2009 (2008) (575)
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes. (2009) (569)
Ensembl 2007 (2006) (553)
Comparative Genome and Proteome Analysis of Anopheles gambiae and Drosophila melanogaster (2002) (536)
Pfam 3.1: 1313 multiple alignments and profile HMMs match the majority of proteins (1999) (532)
Integrative annotation of chromatin elements from ENCODE data (2012) (523)
Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity. (2011) (500)
Ensembl 2011 (2010) (482)
An overview of Ensembl. (2004) (462)
EnsMart: a generic system for fast and flexible access to biological data. (2003) (457)
Mapping the human genetic architecture of COVID-19 (2021) (455)
Apollo: a sequence annotation editor (2002) (446)
The landscape of histone modifications across 1% of the human genome in five human cell lines. (2007) (436)
Efficient storage of high throughput DNA sequencing data using reference-based compression. (2011) (404)
An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs). (2008) (399)
Common genetic variation drives molecular heterogeneity in human iPSCs (2017) (397)
Challenges and standards in integrating surveys of structural variation (2007) (390)
Using GeneWise in the Drosophila annotation experiment. (2000) (384)
Patterns of somatic structural variation in human cancer genomes (2020) (377)
Ensembl 2008 (2007) (362)
Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
EGASP: the human ENCODE Genome Annotation Assessment Project (2006) (344)
A physical map of the mouse genome (2002) (338)
Genome-wide meta-analysis identifies new susceptibility loci for migraine (2013) (336)
High-resolution genome-wide in vivo footprinting of diverse transcription factors in human cells. (2011) (332)
Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans (2010) (330)
Sense from sequence reads: methods for alignment and assembly (2009) (321)
Ensembl’s 10th year (2009) (321)
Open Targets: a platform for therapeutic target identification and validation (2016) (321)
Integration of cytogenetic landmarks into the draft sequence of the human genome (2001) (316)
Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs. (2008) (311)
PH domain: the first anniversary. (1994) (300)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel (2015) (296)
Factorbook.org: a Wiki-based database for transcription factor-binding data generated by the ENCODE consortium (2012) (279)
Ensembl 2005 (2004) (274)
MinION Analysis and Reference Consortium: Phase 1 data release and analysis (2015) (269)
A Transcription Factor Collective Defines Cardiac Cell Fate and Reflects Lineage History (2012) (258)
Ensembl 2002: accommodating comparative genomics (2003) (257)
Ensembl 2006 (2005) (255)
Comparative genomics: genome-wide analysis in metazoan eukaryotes (2003) (251)
Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors (2012) (249)
Modeling gene expression using chromatin features in various cellular contexts (2012) (248)
VectorBase: a data resource for invertebrate vector genomics (2008) (239)
The HGNC Database in 2008: a resource for the human genome (2007) (232)
The implications of alternative splicing in the ENCODE protein complement (2007) (227)
Integrating Genomics into Healthcare: A Global Responsibility. (2019) (221)
Identification of novel peptide hormones in the human proteome by hidden Markov model screening. (2007) (221)
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. (2007) (221)
The EBI RDF platform: linked open data for the life sciences (2014) (221)
Pebble and Rock Band: Heuristic Resolution of Repeats and Scaffolding in the Velvet Short-Read de Novo Assembler (2009) (217)
Comparative analysis of noncoding regions of 77 orthologous mouse and human gene pairs. (1999) (212)
SNP and haplotype mapping for genetic analysis in the rat (2008) (200)
The topography of mutational processes in breast cancer genomes (2016) (198)
Comprehensive molecular characterization of mitochondrial genomes in human cancers (2017) (197)
Prepublication data sharing (2009) (190)
Genome-wide nucleotide-level mammalian ancestor reconstruction. (2008) (188)
Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species (2011) (188)
Understanding transcriptional regulation by integrative analysis of transcription factor binding data (2012) (170)
Epigenome-wide Association Studies and the Interpretation of Disease -Omics (2016) (167)
The Pfam Protein Families Database (2002) (166)
Ensembl Genomes: Extending Ensembl across the taxonomic space (2009) (165)
PairWise and SearchWise: finding the optimal alignment in a simultaneous comparison of a protein profile against all DNA translation frames. (1996) (160)
InterPro--an integrated documentation resource for protein families, domains and functional sites. (2000) (157)
Ensembl Genome Browser (2010) (156)
Cancer and genomics (2001) (156)
The making of ENCODE: Lessons for big-data projects (2012) (142)
The Ensembl core software libraries. (2004) (131)
Dynamite: A Flexible Code Generating Language for Dynamic Programming Methods Used in Sequence Comparison (1997) (130)
VectorBase: a home for invertebrate vectors of human pathogens (2006) (127)
The European Bioinformatics Institute in 2016: Data growth and integration (2015) (126)
Ensembl 2004 (2004) (123)
Cell-type specific and combinatorial usage of diverse transcription factors revealed by genome-wide binding studies in multiple human cells. (2012) (117)
RNA modifications detection by comparative Nanopore direct RNA sequencing (2019) (117)
Petabyte-scale innovations at the European Nucleotide Archive (2008) (116)
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals (2019) (114)
Corrigendum: The BioPAX community standard for pathway data sharing (2010) (114)
Update of the Anopheles gambiae PEST genome assembly (2007) (114)
Integrating biological data – the Distributed Annotation System (2008) (113)
Locus Reference Genomic sequences: an improved basis for describing human DNA variants (2010) (108)
Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) (2001) (106)
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries (2021) (105)
Analysis of variation at transcription factor binding sites in Drosophila and humans (2012) (104)
The genome sequence of the spontaneously hypertensive rat: Analysis and functional significance. (2010) (101)
Transcriptome analysis for the chicken based on 19,626 finished cDNA sequences and 485,337 expressed sequence tags. (2005) (101)
A survey of homozygous deletions in human cancer genomes. (2005) (100)
Sense from sequence reads: methods for alignment and assembly (2010) (98)
Hidden Markov models in biological sequence analysis (2001) (98)
Evolutionary Constraints of Phosphorylation in Eukaryotes, Prokaryotes, and Mitochondria* (2010) (96)
MinION Analysis and Reference Consortium: Phase 2 data release and analysis of R9.0 chemistry (2017) (96)
Trawler: de novo regulatory motif discovery pipeline for chromatin immunoprecipitation (2007) (88)
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data (2016) (86)
Breast cancer genome and transcriptome integration implicates specific mutational signatures with immune cell infiltration (2016) (86)
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle (2019) (83)
A call for public archives for biological image data (2018) (81)
The Anopheles gambiae genome: an update. (2004) (81)
Confounding between recombination and selection, and the Ped/Pop method for detecting selection. (2008) (79)
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. (2004) (78)
RNAcentral: A vision for an international database of RNA sequences. (2011) (76)
The Pfam protein families database (2007) (72)
Priorities for nucleotide trace, sequence and annotation data capture at the Ensembl Trace Archive and the EMBL Nucleotide Sequence Database (2007) (71)
Optimized design and assessment of whole genome tiling arrays (2007) (71)
Mining the draft human genome (2001) (70)
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans (2014) (69)
A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers (2017) (67)
Approaches to comparative sequence analysis: towards a functional view of vertebrate genomes (2008) (65)
A SNP Map of the Rat Genome Generated from cDNA Sequences (2004) (64)
Sequence progressive alignment, a framework for practical large-scale probabilistic consistency alignment (2009) (64)
A Whole-Genome Assembly of Drosophila (2000) (63)
Genomics in healthcare: GA4GH looks to 2022 (2017) (63)
Improvements to services at the European Nucleotide Archive (2009) (63)
The Genome Knowledgebase: a resource for biologists and bioinformaticists. (2003) (63)
Promoter shape varies across populations and affects promoter evolution and expression noise (2017) (63)
GA4GH: International policies and standards for data sharing across genomic research and healthcare (2021) (62)
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research (2022) (62)
Human genomics: The end of the start for population sequencing (2015) (62)
Linked electronic health records for research on a nationwide cohort of more than 54 million people in England: data resource (2021) (62)
Ensembl regulation resources (2016) (60)
Leveraging European infrastructures to access 1 million human genomes by 2022 (2019) (60)
Genetic and functional insights into the fractal structure of the heart (2020) (60)
Genomic reconstruction of the SARS-CoV-2 epidemic in England (2021) (59)
A small cell lung cancer genome reports complex tobacco exposure signatures (2009) (58)
Arabidopsis Reactome: A Foundation Knowledgebase for Plant Systems Biology[W] (2008) (58)
The discovery, positioning and verification of a set of transcription-associated motifs in vertebrates (2005) (57)
Quantitative Genetics of CTCF Binding Reveal Local Sequence Effects and Different Modes of X-Chromosome Association (2014) (56)
Policy challenges of clinical genome sequencing (2013) (53)
In Vivo Validation of a Computationally Predicted Conserved Ath5 Target Gene Set (2007) (53)
A Synthetic Biology Roadmap for the UK (2012) (52)
Genetic variants regulating expression levels and isoform diversity during embryogenesis (2016) (51)
Genomic and Phenotypic Characterization of a Wild Medaka Population: Towards the Establishment of an Isogenic Population Genetic Resource in Fish (2014) (51)
The European Bioinformatics Institute in 2017: data coordination and integration (2017) (50)
The European Bioinformatics Institute’s data resources 2014 (2013) (49)
What everybody should know about the rat genome and its online resources (2008) (49)
Sockeye: a 3D environment for comparative genomics. (2004) (48)
The human leukemia virus HTLV-1 alters the structure and transcription of host chromatin in cis (2018) (46)
EMMA—mouse mutant resources for the international scientific community (2009) (46)
Major submissions tool developments at the European nucleotide archive (2011) (45)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (43)
Genome annotation techniques: new approaches and challenges. (2002) (43)
A database and API for variation, dense genotyping and resequencing data (2010) (43)
The BioPAX community standard for pathway data sharing (Nature Biotechnology (2010) 28, (935-942)) (2012) (41)
Sex differences in oncogenic mutational processes (2019) (41)
Comparison of Associations with Different Macular Inner Retinal Thickness Parameters in a Large Cohort: The UK Biobank. (2020) (41)
REMBI: Recommended Metadata for Biological Images—enabling reuse of microscopy data in biology (2021) (39)
Estimating the neutral rate of nucleotide substitution using introns. (2006) (38)
Allele-specific and heritable chromatin signatures in humans. (2010) (38)
Genome information resources - developments at Ensembl. (2004) (37)
A new strategy for genome assembly using short sequence reads and reduced representation libraries. (2010) (37)
Gene finding in the chicken genome (2005) (37)
Paralogous annotation of disease‐causing variants in long QT syndrome genes (2012) (36)
GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction (2016) (36)
Genome browsing with Ensembl: a practical overview. (2007) (36)
FORGE: A tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions (2014) (33)
The future of DNA sequence archiving (2012) (33)
The European Bioinformatics Institute in 2018: tools, infrastructure and training (2018) (33)
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)
Assemblies: the good, the bad, the ugly (2010) (30)
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors (2019) (29)
An effective model for natural selection in promoters. (2010) (29)
Open annotation offers a democratic solution to genome sequencing (2000) (29)
Using human genetics to make new medicines (2015) (28)
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources (2022) (27)
Finding and sharing: new approaches to registries of databases and services for the biomedical sciences (2010) (27)
Dry work in a wet world: computation in systems biology (2006) (26)
PhenotypeSimulator: A comprehensive framework for simulating multi-trait, multi-locus genotype to phenotype relationships (2018) (26)
The European Bioinformatics Institute's data resources (2003) (26)
Databases and tools for browsing genomes. (2002) (26)
Biological database design and implementation (2004) (26)
An International Bioinformatics Infrastructure to Underpin the Arabidopsis Community (2010) (26)
Progress in sequencing the mouse genome (2001) (26)
ProtEST: protein multiple sequence alignments from expressed sequence tags (2000) (23)
Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development (2013) (23)
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images (2020) (23)
Searching databases to find protein domain organization. (2000) (23)
Genomic information infrastructure after the deluge (2010) (22)
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (22)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2018) (22)
The European Bioinformatics Institute in 2020: building a global infrastructure of interconnected data resources for the life sciences (2019) (21)
The systematic annotation of the three main GPCR families in Reactome (2010) (21)
Discovering novel cis-regulatory motifs using functional networks. (2003) (21)
Genomic resources for invertebrate vectors of human pathogens, and the role of VectorBase. (2009) (21)
Chromatin and heritability: how epigenetic studies can complement genetic approaches. (2011) (20)
Evolutionary genomics: Come fly with us (2007) (20)
Common genetic variation drives molecular heterogeneity in human iPSCs (2016) (19)
TranscriptSNPView: a genome-wide catalog of mouse coding variation (2006) (19)
The Distributed Annotation System for Integration of Biological Data (2006) (18)
A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine (2017) (18)
MAPU 2.0: high-accuracy proteomes mapped to genomes (2008) (17)
COVID-19 trajectories among 57 million adults in England: a cohort study using electronic health records (2022) (17)
htsget: a protocol for securely streaming genomic data (2018) (17)
Identification of domains from protein sequences. (2000) (16)
The European Bioinformatics Institute: empowering cooperation in response to a global health crisis (2020) (16)
The language of race, ethnicity, and ancestry in human genetic research (2021) (15)
ENFIN—a Network to Enhance Integrative Systems Biology (2007) (15)
Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease (2014) (15)
Ensembl: a genome infrastructure. (2003) (15)
Advanced Genomic Data Mining (2008) (15)
A roadmap for restoring trust in Big Data. (2018) (15)
Correction: Reactome: a knowledge base of biologic pathways and processes (2009) (15)
An Introduction to the Reactome Knowledgebase of Human Biological Pathways and Processes (2007) (14)
International federation of genomic medicine databases using GA4GH standards (2021) (14)
Personalized profiles for disease risk must capture all facets of health (2021) (14)
Integrative knowledge management to enhance pharmaceutical R&D (2014) (13)
The consequence of natural selection on genetic variation in the mouse. (2010) (13)
Interactions between genetic variation and cellular environment in skeletal muscle gene expression (2017) (11)
Considerations for the inclusion of 2x mammalian genomes in phylogenetic analyses (2011) (11)
Toward practical high-capacity low-maintenance storage of digital information in synthesised DNA (2013) (11)
Author response: The Human Cell Atlas (2017) (10)
The Bioperl project: motivation and usage (2000) (10)
A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer’s disease (2020) (10)
Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences (2019) (10)
Picking Pyknons out of the Human Genome (2006) (9)
Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (9)
The European Bioinformatics Institute (EMBL-EBI) in 2021 (2021) (8)
LiMMBo: a simple, scalable approach for linear mixed models in high-dimensional genetic association studies (2018) (8)
Optimising oligonucleotide array design for ChIP-on-chip (2007) (8)
ENFIN--A European network for integrative systems biology. (2009) (8)
Prepublication data sharing: Benefits and Best Practices of Rapid Pre-Publication Data Release (2009) (7)
Abstract 2: Metabolomics analysis reveals distinct profiles of non-muscle invasive and muscle-invasive bladder cancer (2016) (7)
Unrestricted free access works and must continue (2003) (7)
Mendelian Randomization. (2021) (7)
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism (2021) (7)
Visualization of loop extrusion by DNA nanoscale tracing in single human cells (2021) (7)
ChromoTrace: Computational reconstruction of 3D chromosome configurations for super-resolution microscopy (2018) (7)
The Convergence of Research and Clinical Genomics. (2019) (6)
Nanopore ReCappable sequencing maps SARS-CoV-2 5′ capping sites and provides new insights into the structure of sgRNAs (2021) (6)
The International Human Genome Project (2021) (6)
ChromoTrace: Reconstruction of 3D Chromosome Configurations by Super-Resolution Microscopy (2017) (6)
A putative homolog of U2AF65 in S. cerevisiae. (1992) (6)
Reactome - a knowledgebase of human biological pathways (2007) (6)
The ENCODE (ENCyclopedia Of DNA Elements) Project The ENCODE Project Consortium (2004) (6)
CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank (2021) (5)
Selective clonal persistence of human retroviruses in vivo: radial chromatin organization, integration site and host transcription (2021) (5)
BOSS-RUNS: a flexible and practical dynamic read sampling framework for nanopore sequencing (2020) (5)
Genomic variations and epigenomic landscape of the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel (2021) (5)
Strengths and Weaknesses of Selected Modeling Methods Used in Systems Biology (2011) (4)
Using Genomic Concordance to Estimate COVID-19 Transmission Risk Across Different Community Settings in England 2020/21 (2021) (4)
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022 (2019) (4)
Selective clonal persistence of human retroviruses in vivo: Radial chromatin organization, integration site, and host transcription (2022) (4)
Biomolecular Data Resources: Bioinformatics Infrastructure for Biomedical Data Science (2019) (4)
Common genetic variation drives molecular heterogeneity in human iPSCs (vol 546, pg 370, 2017) (2017) (4)
The Mighty Fruit Fly Moves into Outbred Genetics (2016) (3)
SPEM: a parser for EMBL style flat file database entries (1998) (3)
Genome wide association analysis of the heart using high-resolution 3D cardiac MRI identifies new genetic loci underlying cardiac structure and function (2016) (3)
Needed for completion of the human genome: hypothesis driven experiments and biologically realistic mathematical models (2004) (3)
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (3)
Sequence Alignment in Bioinformatics (2000) (3)
The Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel (2021) (3)
Reactome: An integrated expert model of human molecular processes and access toolkit (2007) (3)
ENFIN - An Integrative Structure for Systems Biology (2008) (3)
Archaic humans: Four makes a party (2013) (3)
Dynamic, adaptive sampling during nanopore sequencing using Bayesian experimental design (2022) (3)
Protein Sequence Analysis and Domain Identification (2005) (2)
Erratum: The BioPAX community standard for pathway data sharing (Nat. Biotechnol. (2010) 28 (935-942) (2010) (2)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity (2017) (2)
Genomic analysis reveals a functional role for myocardial trabeculae in adults (2019) (2)
Progress in Medicine: Experts Take Stock (2015) (2)
EGASP: the human ENCODE Genome Annotation Assessment (2015) (1)
Modeling gene expression using chromatin features in various cellular contexts (2012) (1)
Development of integrated high-resolution three-dimensional MRI and computational modelling techniques to identify novel genetic and anthropometric determinants of cardiac form and function (2016) (1)
Journey to the genetic interior. Interview by Stephen S Hall. (2012) (1)
Confounding between recombination and selection, and a novel genome-wide method for detecting selection (2007) (1)
Corrigendum: A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers (2017) (1)
Identifying the genetic basis of variation in cell behaviour in human iPS cell lines from healthy donors (2018) (1)
Big Data Analysis of Electronic Health Records: Clinically interpretable representations of older adult inpatient trajectories using time-series numerical data and Hidden Markov Models (2021) (1)
Analysis and functional significance The genome sequence of the spontaneously hypertensive rat : Material Supplemental (2010) (1)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume (2019) (1)
Genomic and phenotypic characterisation of a wild Medaka population: Establishing an isogenic population genetic resource in fish (2013) (1)
Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression (2020) (1)
Analysis of variation at transcription factor binding sites in Drosophila and humans (2012) (1)
elements that shape cell-type identity Open chromatin defined by DNaseI and FAIRE identifies regulatory Material Supplemental (2011) (1)
Systems Genetics Approach to Study Congenital Heart Disease in a Fish Model (2018) (1)
A putative homology of U2AF65 in S. cerevisiae. (1993) (1)
Identification and analysis of functional elements in 1 % of the human genome by the ENCODE pilot project The ENCODE Project Consortium * (2007) (1)
Author Correction: Landscape of somatic mutations in 560 breast cancer whole-genome sequences (2019) (1)
Author Correction: Pan-cancer analysis of whole genomes (2023) (1)
Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England (2021) (1)
Levers and fulcrums: progress in cis-regulatory motif models (2008) (0)
Ensembl: Annotating metazoan genomes (2001) (0)
EBI and Elixir: a life sciences information infrastructure (2014) (0)
Report of an EU projects workshop on systems biology held in Brussels, Belgium on 8 December 2004. (2005) (0)
Abstract P6-08-10: Mutational signatures impact the breast cancer transcriptome and distinguish mitotic from immune response pathways (2016) (0)
Innate Immune Signaling Pathways in Reactome (2010) (0)
Decision letter: Whole-organism eQTL mapping at cellular resolution with single-cell sequencing (0)
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism (2023) (0)
A Simple Reduction for Full-Permuted Pattern Matching Problems on Multi-Track Strings (2019) (0)
Bioinformatics and statistical genomics (2009) (0)
Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation (2022) (0)
Software Apollo : a sequence annotation editor (2003) (0)
Author Index (2002) (0)
Genome-Wide Analysis of Polygenic Cardiac Traits in Medaka Inbred Strains (2020) (0)
graphsAlgorithms for de novo short read assembly using de Bruijn (2010) (0)
The Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel (2022) (0)
Genetic and functional insights into the fractal structure of the heart (2020) (0)
Author Correction: Inferring structural variant cancer cell fraction (2022) (0)
Using Nanocompore to Identify RNA Modifications from Direct RNA Nanopore Sequencing Data (2023) (0)
Launch of the gene curation coalition database (2021) (0)
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (0)
Genomic variations and epigenomic landscape of the Medaka Inbred Kiyosu-Karlsruhe (MIKK) panel (2022) (0)
Big Data in Biology... and why open source matters (2015) (0)
Double Dutch for duplications (2007) (0)
The Reactome reloaded (2010) (0)
Explorer Mouse genomic variation and its effect on phenotypes and gene regulation (2017) (0)
A User ’ s Guide to the Encyclopedia of DNA Elements ( ENCODE ) The ENCODE Project Consortium (2011) (0)
Signatures in Humans Heritable Individual-Specific and Allele-Specific Chromatin (2011) (0)
Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images (2021) (0)
BioMedBridges pilot life science data integration using rest web services (2014) (0)
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures (2017) (0)
Publisher Correction: Genomic reconstruction of the SARS CoV-2 epidemic in England (2022) (0)
The EMBL-EBI channel (2016) (0)
Has the chimpanzee Y chromosome been sequenced (2006) (0)
1. Rivadeneira F, Uitterlinden AG. Osteoporosis Genes Identified by Genome-wide Association Studies. Genetics of Bone Biology and Skeletal Disease. 2013:243-56. (2013) (0)
A call for public archives for biological image data (2018) (0)
Correction: Quantitative Genetics of CTCF Binding Reveal Local Sequence Effects and Different Modes of X-Chromosome Association (2015) (0)
Promoter shape varies across populations and affects promoter evolution and expression noise (2017) (0)
Softwareand API for variation, dense genotyping and resequencing data (2010) (0)
The Gene Ontology Annotation database ( GOA ) : A community re source of GO annotations to the UniProt Knowledgebase (2005) (0)
Visualising the Epigenome (2009) (0)
From genetic variation to precision medicine (2023) (0)
Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial (2019) (0)
Human Transcription Factors Running title : Analysis of Sites of 119 TFs in the Human Genome (2012) (0)
Symposium (2005) (0)
Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures (2022) (0)
Big Data in Biology: What the Pandemic has Taught us (2021) (0)
Bioinformatics and statistical genomics (2009) (0)
Classification of human genomic regions based on experimentally determined binding sites of more than 100 transcription-related factors (2012) (0)
RCN: AN INTERNATIONAL ARABIDOPSIS INFORMATICS CONSORTIUM (2010) (0)
HRDetect : A mutational signature based predictor of BRCA 1 and BRCA 2 deficiency (2017) (0)
Differential Associations with Macular Inner Retinal Thickness (2019) (0)
EBI Search: A new way to explore biology (2011) (0)
The interplay between recombination and selection can confound their inference from population data - But suggests a novel genome-wide method for detecting selection (2007) (0)
Nanoscale 3D DNA tracing in single human cells visualizes loop extrusion directly in situ (2023) (0)
cells humanfactors revealed by genome-wide binding studies in multiple Cell-type specific and combinatorial usage of diverse transcription Material Supplemental (2011) (0)
Modeling Competition of Transcription Factors for DNA Binding Sites Improves Binding Site Predictions (2010) (0)
P109. Quantitative trait loci analysis in the Medaka (Oryzias latipes) species (2010) (0)
GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals (2019) (0)
Author Correction: The evolutionary history of 2,658 cancers (2023) (0)
Pilot integration of REST-based vignette services for the second round biomedical sciences research infrastructures (2015) (0)
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes (2020) (0)
UK 10 K Consortium (2019) (0)
Using machine learning to model older adult inpatient trajectories from electronic health records data (2022) (0)
Innate Immune Signaling Pathways in Reactome (94.13) (2010) (0)
Author response: Population-scale proteome variation in human induced pluripotent stem cells (2020) (0)
Progress in Medicine : Experts Take Stock The PLOSMedicine (2015) (0)

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