Deanna M. Church | Academic Influence

Deanna M. Church's AcademicInfluence.com Rankings

Deanna M. Church

Economics

#3764

World Rank

#4258

Historical Rank

#1066

USA Rank

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Economics

Deanna M. Church's Degrees

PhD Genetics Stanford University
Bachelors Biology University of California, Santa Cruz

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Why Is Deanna M. Church Influential?

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According to Wikipedia, Deanna Church is a scientist working in the areas of bioinformatics and genomics. She is known for her work on the human genome, "making the genome a friendlier place". Life Church graduated with a bachelor's degree from the University of Virginia in 1990. She received a doctorate in Genomics from University of California, Irvine in 1997. Church describes her passion for bioinformatics as connected to her enjoyment of problem solving and being in a team that has direct impacts on people's medical care.

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Deanna M. Church'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)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) (7826)
An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
Database resources of the National Center for Biotechnology Information: update (2004) (5431)
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)
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member (1992) (2604)
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. (2010) (2348)
ClinVar: public archive of relationships among sequence variation and human phenotype (2013) (2116)
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia (1994) (1190)
Database resources of the National Center for Biotechnology (2003) (1179)
Direct determination of diploid genome sequences (2016) (603)
Multi-platform discovery of haplotype-resolved structural variation in human genomes (2017) (550)
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. (2017) (541)
Lineage-Specific Biology Revealed by a Finished Genome Assembly of the Mouse (2009) (472)
Modernizing Reference Genome Assemblies (2011) (402)
A genome-wide comparison of recent chimpanzee and human segmental duplications (2005) (396)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities (2011) (395)
Spidey: a tool for mRNA-to-genomic alignments. (2001) (336)
Database resources of the National Center for Biotechnology Information (2020) (323)
Database resources of the National Center for Biotechnology Information (2018) (296)
Isolation of genes from complex sources of mammalian genomic DNA using exon amplification (1994) (275)
Cross-species sequence comparisons: a review of methods and available resources. (2003) (275)
Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat (1994) (269)
Shotgun sequence assembly and recent segmental duplications within the human genome (2004) (259)
The Ras GTPase-activating-protein-related human protein IQGAP2 harbors a potential actin binding domain and interacts with calmodulin and Rho family GTPases (1996) (249)
Mouse segmental duplication and copy number variation (2008) (240)
Assembly: a resource for assembled genomes at NCBI (2015) (223)
dbVar and DGVa: public archives for genomic structural variation (2012) (211)
The emergent landscape of the mouse gut endoderm at single-cell resolution (2019) (205)
Completing the map of human genetic variation (2007) (199)
Resolving the full spectrum of human genome variation using Linked-Reads (2017) (161)
Database resources of the National Center for Biotechnology Information: 2002 update (2002) (155)
Extending reference assembly models (2015) (138)
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly (2017) (135)
Database resources of the National Center for Biotechnology Information (2007) (133)
Database resources of the National Center for Biotechnology Information (2008) (131)
Analysis of segmental duplications and genome assembly in the mouse. (2004) (125)
Single haplotype assembly of the human genome from a hydatidiform mole (2014) (120)
Sequence variations in the public human genome data reflect a bottlenecked population history (2002) (120)
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing (2019) (111)
Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) (2001) (106)
Database resources of the National Center for Biotechnology Information (2012) (100)
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. (1995) (97)
Reference quality assembly of the 3.5-Gb genome of Capsicum annuum from a single linked-read library (2017) (96)
Database resources of the National Center for Biotechnology Information (2011) (90)
A novel G protein-coupled receptor kinase gene cloned from 4p16.3. (1992) (85)
Public data archives for genomic structural variation (2010) (82)
Database resources of the National Center for Biotechnology Information (2014) (76)
A radiation hybrid map of mouse genes (2001) (74)
Good laboratory practice for clinical next-generation sequencing informatics pipelines (2015) (71)
Database resources of the National Center for Biotechnology Information (2009) (68)
Protein synthesis requirements for nuclear division, cytokinesis, and cell separation in Saccharomyces cerevisiae (1991) (61)
Generation of RCAS vectors useful for functional genomic analyses. (2001) (59)
Database resources of the National Center for Biotechnology Information (2005) (58)
A variant by any name: quantifying annotation discordance across tools and clinical databases (2016) (53)
Achieving high-sensitivity for clinical applications using augmented exome sequencing (2015) (52)
Database resources of the National Center for Biotechnology Information (2006) (51)
A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p. (1997) (48)
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification (1992) (37)
High-throughput sequencing of the DBA/2J mouse genome (2010) (36)
The Genome Assembly Archive: A New Public Resource (2004) (35)
Single-Cell Transcriptomics Reveals Early Emergence of Liver Parenchymal and Non-parenchymal Cell Lineages (2020) (34)
Identification and characterization of two novel tetratricopeptide repeat-containing genes. (1996) (34)
Candidate single nucleotide polymorphism selection using publicly available tools: a guide for epidemiologists. (2006) (34)
Database resources of the National Center for Biotechnology Information (2021) (33)
Genome Reference Consortium (2013) (33)
Haplotyping the Vitis collinear core genome with rhAmpSeq improves marker transferability in a diverse genus (2020) (32)
Identification of human chromosome 9 specific genes using exon amplification. (1993) (30)
Database resources of the National Center for Biotechnology Information. (2001) (29)
Mouse Chromosome 2 (1999) (27)
A gene from chromosome 4p16.3 with similarity to a superfamily of transporter proteins. (1993) (25)
High-Quality Assembly of an Individual of Yoruban Descent (2016) (21)
Multi-platform discovery of haplotype-resolved structural variation in human genomes (2019) (20)
Connecting sequence and biology in the laboratory mouse. (2003) (20)
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings. (2017) (19)
Clone DB: an integrated NCBI resource for clone-associated data (2012) (18)
De novo assembly of the olive fruit fly (Bactrocera oleae) genome with linked-reads and long-read technologies minimizes gaps and provides exceptional Y chromosome assembly (2020) (18)
Building and Improving Reference Genome Assemblies (2017) (18)
Transcript mapping of the human chromosome 11q12-q13.1 gene-rich region identifies several newly described conserved genes. (1998) (18)
Rapid generation of nested chromosomal deletions on mouse chromosome 2. (2000) (16)
Database resources of the National Center for Biotechnology Information (2009) (15)
Alternate-locus aware variant calling in whole genome sequencing (2016) (14)
Linked-Read sequencing resolves complex structural variants (2017) (13)
Corrigendum: Direct determination of diploid genome sequences. (2018) (13)
The effects of common structural variants on 3D chromatin structure (2020) (12)
A radiation hybrid map of human chromosome 5 with integration of cytogenetic, genetic, and transcript maps. (1997) (12)
Mutation detection in thousands of acute myeloid leukemia cells using single cell RNA-sequencing (2018) (11)
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. (1992) (10)
Gene identification by exon amplification. (1999) (10)
Genomes for all (2018) (8)
Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome (2019) (7)
An evidence-based approach to establish the functional and clinical significance of CNVs in intellectual and developmental disabilities (7)
WebaCGH: an interactive online tool for the analysis and display of array comparative genomic hybridisation data. (2006) (6)
Charting the emergent organotypic landscape of the mammalian gut endoderm at single-cell resolution (2018) (6)
Online resources for genomic structural variation. (2012) (5)
Back to Bermuda: how is science best served? (2009) (5)
Exon trapping and sequence-based methods of gene finding in transcript mapping of human 4p 16.3 (1997) (5)
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly (2016) (4)
A next-generation human genome sequence. (2022) (4)
De novo genome assembly of the olive fruit fly (Bactrocera oleae) developed through a combination of linked-reads and long-read technologies (2018) (3)
Efficiency and specificity of gene isolation by exon amplification (1993) (2)
A framework for evaluating edited cell libraries created by massively parallel genome engineering (2021) (2)
Encyclopedia of the mouse genome VII. Mouse chromosome 2. (1998) (2)
Abstract 1457: Genomic characterization of a PDX model of T-DM1-resistant HER2+ invasive ductal carcinoma using augmented exome sequencing (2015) (2)
Thousands of human sequences provide deep insight into single genomes (2020) (2)
Reference Databases for Disease Associations (2015) (1)
The 2000 Chromosome Committee Reports for the Mouse Genome (2000) (1)
Variation Overview (2017) (1)
Abstract 3616: Fix the fixation: effect of formalin fixation on targeted sequencing, variant calling and gene expression (2016) (1)
Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome (2019) (1)
The effects of common structural variants on 3D chromatin structure (2020) (1)
Mouse chromosome 2 (2009) (0)
Figure 10. [Screenshot of NCBI Sviewer display...]. (2013) (0)
Figure 11. [A: Search interface for TPF...]. (2013) (0)
Additional file 1 of Alternate-locus aware variant calling in whole genome sequencing (2016) (0)
Genome Workbench: a Desktop Application for Viewing and Analyzing Sequence Data (2012) (0)
Reference quality assembly of the 3.5-Gb genome of Capsicum annuum from a single linked-read library (2018) (0)
[Table, dbVar and structural variation]. (2013) (0)
Figure 5. [Top panel: RefSeq copy of...]. (2013) (0)
Author Correction: A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing (2022) (0)
Alternate-locus aware variant calling in whole genome sequencing (2016) (0)
Abstract 3899: Integrating RNA/DNA analysis with a comprehensive cancer panel to improve interpretations of stage four metastatic renal cell carcinoma (2015) (0)
Table 1. [Identifiers used by ClinVar]. (2013) (0)
Figure 2. [Sequence hierarchy in human chromosome...]. (2013) (0)
Molecular Cytogenetics Using Linked-Reads (2016) (0)
Figure 3. [Detailed display of an RCV record. This is currently the default display.]. (2013) (0)
A chromosome-length assembly of the Hawaiian Monk seal (Neomonarchus schauinslandi) confirms genomic stability in the Pinnipeds and a prolonged history of “genetic purging” (2022) (0)
Quantitative Profiling of Large and Complex Single Cell Populations (2017) (0)
Using Linked-Reads to Enable Efficient de novo Diploid Assembly (2017) (0)
A Chromosome-Length Assembly of the Hawaiian Monk Seal (Neomonachus schauinslandi): A History of “Genetic Purging” and Genomic Stability (2022) (0)
Figure 7. [Schematic of component overlaps and...]. (2013) (0)
Abstract 281: Identifying genetic variation and cellular heterogeneity with a comprehensive cancer analysis toolkit (2018) (0)
Figure 3. [A: Ideogram representation of the...]. (2013) (0)
Figure 2. [Tabular results of a ClinVar search.]. (2013) (0)
Abstract 533: Accurately identifying expressed somatic variants for neoantigen detection and immuno-oncology (2016) (0)
Figure 1. [Schematic representation of the assembly...]. (2013) (0)
Connecting the Lab to the Genome: CloneDB (2012) (0)
Extending reference assembly models (2015) (0)
Accuracy and content-enhanced exome and transcriptome sequencing to guide therapeutic decision making in cancer treatment. (2014) (0)
Figure 8. [GRC website. A: GRC announcements...]. (2013) (0)
Analytical validation of comprehensive assays for genomic profiling of cancer from DNA and RNA (2016) (0)
Abstract 3612: Challenges in variant searching and annotation for clinical cancer testing (2016) (0)
A variant by any name: quantifying annotation discordance across tools and clinical databases (2017) (0)
Direct Detection of Expressed Mutations in AML Cells Using Single Cell RNA-Sequencing, and Its Impact on Defining Sources of Expression Heterogeneity (2018) (0)
Effect of assaying the matched normal on clinical cancer sequencing results. (2016) (0)
Figure 1. [Overview of the flow of...]. (2013) (0)
Abstract 3636: Improved clinical variant calling and HLA genotyping with GRCh38 (2016) (0)
Figure 9. [Detail from issue-specific page at...]. (2013) (0)
Thousands of human sequences provide deep insight into single genomes (2020) (0)
Enabling More Complete Genome Analysis Using 10x Linked-Reads (2016) (0)
The emergent landscape of the mouse gut endoderm at single-cell resolution (2019) (0)
Physical mapping in the Cri du Chat region on human chromosome 5 (1994) (0)
Back to Bermuda (2009) (0)
Accessing the Human Genome (2002) (0)
Abstract 3169: The benefits and burdens of assaying matched normal tissue when sequencing cancer genomes (2016) (0)
Abstract 3576: Creating and accurately interpreting clinical grade cancer exomes: Challenges and solutions (2014) (0)
Abstract 3400: Characterizing genomic variation and tumor heterogeneity in cancer (2018) (0)
Abstract 4744: Solving genomic assay trade-offs with an optimized, extended cancer gene panel for research and clinical applications (2015) (0)
Figure 6. [Dataflow for GRC assembly updates.]. (2013) (0)
Tools for Managing and Comparing Assemblies (2009) (0)
Achieving high-sensitivity for clinical applications using augmented exome sequencing (2015) (0)
Abstract 1013: Analyzing infiltrating B cell populations in the tumor microenvironment using single cell transcriptomics (2018) (0)
The detection of clinically relevant cancer mutations using a high depth, augmented, comprehensive cancer gene panel. (2015) (0)
Abstract A2-39: Augmented targeted NGS in cancer diagnostics: Comparing gene panels and whole exome sequencing for accurate detection of driver mutations (2015) (0)

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