reviewTop 1% cited
Exome sequencing as a tool for Mendelian disease gene discovery
Nature Reviews Genetics · 2011 · Vol. 12(11) · pp. 745–755
Michael J. Bamshad✉(University of Washington)Sarah Ng(University of Washington)Abigail W. Bigham(University of Michigan–Ann Arbor)Holly K. Tabor(University of Washington)Mary J. Emond(University of Washington)Deborah A. Nickerson(University of Washington)Jay Shendure(University of Washington)
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesGenetic factors in colorectal cancerExome sequencingExomeBiologyMendelian inheritanceComputational biologyMissing heritability problemGeneticsDNA sequencingGenomeGenomics
MeSH terms
AllelesBase SequenceHumansMolecular Sequence DataPedigreePhenotypeGenome, HumanSequence Analysis, DNAGenetic Predisposition to DiseaseGenome-Wide Association StudyExome
Funding
- National Institutes of Health
- National Heart, Lung, and Blood Institute
Citations
1,675
FWCI
107.19
field-weighted impact
References
92
Percentile
100%
vs. same field & year
Citations per year
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References
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PLoS Genetics · 2009 · 1,166 citations
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The American Journal of Human Genetics · 2008 · 1,605 citations
A method and server for predicting damaging missense mutations
Nature Methods · 2010 · 13,461 citations
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
Science Translational Medicine · 2011 · 706 citations
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
The American Journal of Human Genetics · 2010 · 772 citations
Genome structural variation discovery and genotyping
Nature Reviews Genetics · 2011 · 1,696 citations
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