Evaluation of copy number variant detection from panel-based next-generation sequencing data

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

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

(2016) Eric Talevich et al.   PLoS Computational Biology

Structural variation mutagenesis of the human genome: Impact on disease and evolution

(2015) James R. Lupski   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

(2015) Terry Vrijenhoek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Identification of copy number variants from exome sequence data

(2014) Pubudu Samarakoon et al.   BMC GENOMICS

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

(2014) Diana W. Bianchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Detection of Clinically Relevant Copy Number Variants with Whole-Exome Sequencing

(2013) Joep de Ligt et al.   HUMAN MUTATION

Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

(2013) K. H. Nicolaides et al.   PRENATAL DIAGNOSIS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS