Measuring coverage and accuracy of whole-exome sequencing in clinical context

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

(2018) Somak Roy et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Comparison of 2 Commercially Available Next-Generation Sequencing Platforms in Oncology

(2017) Nicole M. Kuderer et al.   JAMA Oncology

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

(2017) Sonia Pavan et al.   PLoS One

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity

(2017) Qingyu Wang et al.   Scientific Reports

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Evaluating genomic DNA extraction methods from human whole blood using endpoint and real-time PCR assays

(2016) Linda Koshy et al.   MOLECULAR BIOLOGY REPORTS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Impact of DNA Input Amount and DNA Source on the Performance of Whole-Exome Sequencing in Cancer Epidemiology

(2015) Q. Zhu et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

New insights into the performance of human whole-exome capture platforms

(2015) J. Meienberg et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systematic comparison of variant calling pipelines using gold standard personal exome variants

(2015) Sohyun Hwang et al.   Scientific Reports

Variant detection sensitivity and biases in whole genome and exome sequencing

(2014) Alison M Meynert et al.   BMC BIOINFORMATICS

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

(2014) Andrew R Carson et al.   BMC BIOINFORMATICS

Performance comparison of four exome capture systems for deep sequencing

(2014) Chandra Sekhar Chilamakuri et al.   BMC GENOMICS

Analytical validation of whole exome and whole genome sequencing for clinical applications

(2014) Michael D Linderman et al.   BMC Medical Genomics

Incorporation of Pharmacogenomics into Routine Clinical Practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline Development Process

(2014) Kelly Caudle et al.   CURRENT DRUG METABOLISM

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Comprehensive variation discovery in single human genomes

(2014) Neil I Weisenfeld et al.   NATURE GENETICS

Reducing INDEL calling errors in whole genome and exome sequencing data

(2014) Han Fang et al.   Genome Medicine

Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

(2013) Seema M. Jamal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

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

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

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

(2012) Wendy S. Rubinstein et al.   NUCLEIC ACIDS RESEARCH

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

(2012) Bingshan Li et al.   PLoS Genetics

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

(2011) Eric R Londin et al.   BMC GENOMICS

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Repetitive DNA and next-generation sequencing: computational challenges and solutions

(2011) Todd J. Treangen et al.   NATURE REVIEWS GENETICS

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

(2011) Daniel Aird et al.   GENOME BIOLOGY

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

(2011) Sheila Fisher et al.   GENOME BIOLOGY

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH