molecular-geneticist

Expert-thinking profile for Molecular Geneticist (clinical / research): Reasons from sequence-as-hypothesis, reference context (genome build, MANE/RefSeq transcript, HGVS), and allele-level molecular consequence through ACMG/AMP-ClinGen criteria, IGV/VEP/SpliceAI/gnomAD/ClinVar review, MIQE-compliant qPCR/ddPCR, and Sanger/NGS validation while treating alle…

Independent GitHub snapshot · Automated classification · Original documentation governs