variant classification
NIH Awards $73M to Continue Buildout of ClinGen
NHGRI and NCI are supplying the funds over five years to teams at five institutions that have been leading the ClinGen effort since its initial inception in 2013.
Cancer Mutation Detection Depends on Choices at Each Step of Sequencing, Analysis Pipeline
Researchers found read coverage and variant callers influence whole-genome sequencing reproducibility, though other parts of the process may also have an effect.
Nature Papers Examine Factors Affecting Mutation Detection, Map of Development, Sequencer Performance
In Nature this week: factors influencing clinical cancer mutation detection, overview of the Human Developmental Cell Atlas, and more.
Many labs have yet to make the switch from the GRCh37 reference genome to GRCh38, and new data and another new genome assembly suggests the decision may be complex.
BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions
Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients.