Rebecca Truty

TL;DR: In this article, the authors evaluated splicing variants and their contribution to hereditary disease, and evaluated their prevalence, clinical classifications, and associations with diseases, inheritance, and functional characteristics in a 689,321-person clinical cohort and two large public datasets.

TL;DR: In this article, the authors evaluated the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests, such as large indels, small copy-number variants (CNVs), complex alterations, and variants in low-complexity or segmentally duplicated regions.

TL;DR: The analytic and clinical sensitivity of NGS workflows can vary considerably, particularly for prevalent, technically challenging variants, which can have important implications for the design and validation of tests and the selection of tests for a wide range of clinical indications.

TL;DR: These data provide guidance for clinicians using genetic testing to diagnose neuromuscular disorders and represent one of the largest studies demonstrating the utility of NGS-based testing for these disorders.

TL;DR: The GA4GH Benchmarking Team has developed standardized performance metrics and tools for benchmarking germline small variant calls, and has made significant progress on standardizing comparison methods, metric definitions and reporting, as well as developing and using truth sets.