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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

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Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

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Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

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Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

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Exome Sequencing in Fetuses with Structural Malformations

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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

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(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

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The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

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Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening

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Whole-Genome and Whole-Exome Sequencing in Hereditary Cancer

(2012) Julianne M. O’Daniel et al.   CANCER JOURNAL

Utilizing Graph Theory to Select the Largest Set of Unrelated Individuals for Genetic Analysis

(2012) Jeffrey Staples et al.   GENETIC EPIDEMIOLOGY

Incidental copy-number variants identified by routine genome testing in a clinical population

(2012) Philip M. Boone et al.   GENETICS IN MEDICINE

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

(2012) Gabriel A. Lazarin et al.   GENETICS IN MEDICINE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Clan Genomics and the Complex Architecture of Human Disease

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Whole-Genome Sequencing for Optimized Patient Management

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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Proportionally more deleterious genetic variation in European than in African populations

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