Functional Consequences of Variants is a genomic analysis construct that characterizes the biological impact of genetic variants by specifying how they alter molecular functions, regulatory elements, or protein structure within the context of genome function and phenotypic expression.
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2017–2026
198
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Publications
458
Annotation of functional variation in personal genomes using RegulomeDB
Alan P. Boyle, Eurie L. Hong, Manoj Hariharan et al. · Genome Research · 2012 · 2.9K citations · Full text
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Hana Lango Allen, Karol Estrada, Guillaume Lettre et al. · Nature · 2010 · 2.1K citations · Full text
Mouse genomic variation and its effect on phenotypes and gene regulation
Thomas Keane, Leo Goodstadt, Petr Danecek et al. · Nature · 2011 · 1.8K citations · Full text
Guidelines for investigating causality of sequence variants in human disease
Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slavé Petrovski, Quanli Wang, Erin L. Heinzen et al. · PLoS Genetics · 2013 · 993 citations · Full text
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- QWQingyi Wei
The University of Texas MD Anderson Cancer Center, United States
9 publications · 344 citations
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The University of Texas MD Anderson Cancer Center, United States
7 publications · 246 citations
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18 h-index
76 publications
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Broad Institute
Cambridge, United States
17 h-index
130 publications
29.6K citations
National Institutes of Health
Bethesda, United States
17 h-index
79 publications
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Stanford University
Stanford, United States
15 h-index
62 publications
51.7K citations
Duke University
Durham, United States
14 h-index
59 publications
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Massachusetts General Hospital
Boston, United States
14 h-index
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Paris, France
13 h-index
57 publications
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14 publications · 553 citations
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13 publications · 2K citations
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