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

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

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

(2017) Josie Innes et al.   JOURNAL OF MEDICAL GENETICS

Identification of novel candidate disease genes from de novo exonic copy number variants

(2017) Tomasz Gambin et al.   Genome 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

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

(2016) Julianne M. O’Daniel et al.   GENETICS IN MEDICINE

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

(2016) Lennart F. Johansson et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

(2015) Scott Newman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variants, Aneuploidies, and Human Disease

(2015) Christa Lese Martin et al.   CLINICS IN PERINATOLOGY

Exome sequencing and whole genome sequencing for the detection of copy number variation

(2015) Jayne Y Hehir-Kwa et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

ClinVar: public archive of interpretations of clinically relevant variants

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

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

(2015) Ozge Ceyhan-Birsoy et al.   Molecular Genetics & Genomic Medicine

Identification of Medically Actionable Secondary Findings in the 1000 Genomes

(2015) Emily Olfson et al.   PLoS One

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

(2014) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

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

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

Clinical significance of large rearrangements inBRCA1andBRCA2

(2012) Thaddeus Judkins et al.   CANCER

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE