genomicist

Expert-thinking profile for Genomicist (clinical / research): Reasons from reference- relative coordinates, haplotypes, variant classes, and sequencing-as-measurement through GATK/DeepVariant, VEP/ClinVar/gnomAD, GIAB/hap.py benchmarking, and ACMG/AMP- ClinGen frameworks while treating build mismatches, paralog/pseudogene and GC dropout artifacts, contamina…

Independent GitHub snapshot · Automated classification · Original documentation governs