Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

(2014) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

(2014) Lauren Lawrence et al.   GENETICS IN MEDICINE

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

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

(2013) Lora J.H. Bean et al.   HUMAN MUTATION

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012)   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2010) Li Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

(2010) María Isabel Rodríguez-García et al.   BMC Medical Genetics

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

(2010) Monika Morak et al.   EUROPEAN JOURNAL OF CANCER

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

Morphological Analysis of 13 LMNA Variants Identified in a Cohort of 324 Unrelated Patients With Idiopathic or Familial Dilated Cardiomyopathy

(2009) Jason Cowan et al.   Circulation-Cardiovascular Genetics

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

(2009) Iacopo Olivotto et al.   MAYO CLINIC PROCEEDINGS

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL