Topic: Sequence Variants

Lucky No. 14: ACMG adds new genes for reporting secondary findings

The American College of Medical Genetics and Genomics Secondary Findings Working Group has recently updated its recommendations.

Introducing NxClinical 6.0 — 5 key updates and improvements

The long-awaited NxClinical update is here! NxClinical 6.0 is packed with over 500 features and improvements - too many to talk about here but this blog features some of the highlights.

Does reanalysis improve diagnostic yield?

A recent paper on the project shared results from a reanalysis in 2017 of the initial 1133 children using new knowledge and findings that have accumulated since the initial analysis. The pace at which improvements in genomic data technologies, analysis, and knowledge are moving, the group hypothesized that it is likely that diagnostic yield would increase via the reanalysis. They sought to determine how much of an improvement can be made over time.