variant classification
Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations
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While neither common nor rare, discrepant variant classification can affect the management of patient care, and there are efforts to improve interpretations.
FDA Recognizes Portion of MSK Oncology Knowledge Base in Public Human Genetic Variant Database
MSK's OncoKB is the first collection of somatic variants that the FDA has accepted for test developers to use in premarket validation studies.
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.
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.