A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants

(2016) T. F. Beck et al.   CLINICAL CHEMISTRY

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN 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

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

(2015) Linnea M. Baudhuin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Good laboratory practice for clinical next-generation sequencing informatics pipelines

(2015) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

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

Variant detection sensitivity and biases in whole genome and exome sequencing

(2014) Alison M Meynert et al.   BMC BIOINFORMATICS

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

(2014) Heather M McLaughlin et al.   BMC Medical Genetics

Regulatory changes raise troubling questions for genomic testing

(2014) Barbara J. Evans et al.   GENETICS IN MEDICINE

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

(2014) Samuel P. Strom et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang 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

Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges

(2014) Patricia A. Deverka et al.   JOURNAL OF LAW MEDICINE & ETHICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

(2014) Catherine A Brownstein et al.   GENOME BIOLOGY

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

(2013) Jonathan S. Berg et al.   GENETICS IN MEDICINE

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

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE