One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Mobile element insertion detection in 89,874 clinical exomes

(2020) Rebecca I. Torene et al.   GENETICS IN MEDICINE

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2020) Joshua L. Deignan et al.   GENETICS IN MEDICINE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

A robust benchmark for detection of germline large deletions and insertions

(2020) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

(2019) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Designing and Implementing NGS Tests for Inherited Disorders – a Practical Framework with Step-by-Step Guidance for Clinical Laboratories

(2019) Avni Santani et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An open resource for accurately benchmarking small variant and reference calls

(2019) Justin M. Zook et al.   NATURE BIOTECHNOLOGY

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

(2019) Evan E. Eichler   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy of Pembrolizumab in Patients With Noncolorectal High Microsatellite Instability/Mismatch Repair–Deficient Cancer: Results From the Phase II KEYNOTE-158 Study

(2019) Aurelien Marabelle et al.   JOURNAL OF CLINICAL ONCOLOGY

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

(2018) Rebecca Truty et al.   GENETICS IN MEDICINE

Efficient Detection of Copy Number Mutations in PMS2 Exons with a Close Homolog

(2018) Daniel S. Herman et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines

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

insiM: in silico Mutator software for bioinformatics pipeline validation of clinical next-generation sequencing (NGS) assays

(2018) Sushant A. Patil et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

A Model Study of In Silico Proficiency Testing for Clinical Next-Generation Sequencing

(2016) Eric J. Duncavage et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

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

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer

(2016) Nadine Tung et al.   JOURNAL OF CLINICAL ONCOLOGY

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing

(2016) Emily M. Kudalkar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Deep sequencing of 10,000 human genomes

(2016) Amalio Telenti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Medical implications of technical accuracy in genome sequencing

(2016) Rachel L. Goldfeder et al.   Genome Medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients

(2015) Stephen E. Lincoln et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Unmet needs: Research helps regulators do their jobs

(2015) Russ B. Altman et al.   Science Translational Medicine

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

ACMG clinical laboratory standards for next-generation sequencing

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

New Approaches to Molecular Diagnosis

(2013) Bruce R. Korf et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Modernizing Reference Genome Assemblies

(2011) Deanna M. Church et al.   PLOS BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH