Background The growing advances in DNA sequencing tools have made analyzing the
human genome cheaper and faster. While such analyses are intended to identify complex …

Genomic testing, including single-nucleotide polymorphism–based microarrays and whole-
genome sequencing, can detect long stretches of the genome that display homozygosity …

Purpose: To develop and validate VisCap, a software program targeted to clinical
laboratories for inference and visualization of germ-line copy-number variants (CNVs) from …

The field of medical genomics involves translating high throughput genetic methods to the
clinic, in order to improve diagnostic efficiency and treatment decision making. Technical …

Context.—Clinical next-generation sequencing (NGS) is being rapidly adopted, but analysis
and interpretation of large data sets prompt new challenges for a clinical laboratory setting …

Purpose: In March 2013 the American College of Medical Genetics and Genomics published
a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants …

Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Background Clinical whole exome sequencing (WES) yields a diagnosis in approximately
30% of patients evaluated for presumed genetic disorders. For unsolved cases, periodic …

Next generation sequencing (NGS) has revolutionised rare disease diagnostics.
Concomitant with advancing technologies has been a rise in the number of new gene …

Purpose: The aim of this study was to develop, operationalize, and pilot test a transparent,
reproducible, and evidence-informed method to determine when to report incidental findings …