Molecular genetic testing is a fast-growing diagnostic discipline. Only a few decades have
passed since Kan and Dozy (1) described the first DNA test, which used a restriction enzyme …

Gene-mapping studies routinely rely on checking for Mendelian transmission of marker
alleles in a pedigree, as a means of screening for genotyping errors and mutations, with the …

Purpose The purpose of this document is to provide guidance for the use of next-generation
sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian …

Recent advances in next‐generation sequencing (NGS) have given rise to new challenges
due to the difficulties in variant pathogenicity interpretation and large dataset management …

Medical Genetics and Genomics: Standards and Guidelines for Documenting Suspected
Consanguinity as an Incidental Finding of Genomic Testing,” 1 provides guidelines to …

Comprehensive variant discovery in the era of complete human reference genomes | Nature
Methods Skip to main content Thank you for visiting nature.com. You are using a browser version …

Genome wide sequencing is an emerging clinical tool that may provide information on
genetic variants that are not directly related to the patient's primary disorder. These …

Clinical genomic tests increasingly use a next-generation sequencing (NGS) platform due in
part to the high fidelity of variant calls, yet rare errors are still possible. In germline DNA …

It is now affordable to order clinically interpreted whole‐genome sequence reports from
clinical laboratories. One major component of these reports is derived from the knowledge …

Disclaimer: These standards and guidelines are designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …