Tag: Variant

Variant Bio Turns Five

This fall will mark five years since Variant Bio began its life as a genomic drug discovery company with a paradigm-changing mission — to fairly and ethically engage historically underrepresented populations in genomic research and use the resulting knowledge to develop life-saving t...

The impact of transcript alignment on variant interpretation

The problematic gene list can be narrowed to 71 genes for hg79 and 15 genes for hg38 selecting the ones with clinical relevance based on coding transcripts (those with NM_* accession) and the ones associated with phenotypes in the Human Phenotype Ontology (HPO). Analyzing clinical data from allexes&...