Towards a Comprehensive Variation Benchmark for Medically-Relevant Autosomal Genes

Explore a 23-minute webinar presented by Dr. Justin Wagner, a Computer Scientist on the NIST Human Genomics team, focusing on developing comprehensive variation benchmarks for medically-relevant autosomal genes. Delve into the work of the Genome in a Bottle (GIAB) consortium, including their efforts to expand small variant benchmarks using long and linked read sequencing, create targeted diploid assembly benchmarks for the Major Histocompatibility Complex, and develop benchmarks for challenging medically-relevant genes. Learn about the challenges in variant calling for certain genes due to mapping difficulties, structural variation, and reference genome issues. Gain insights into the latest advancements in genomic benchmarking and their implications for medical research and diagnostics. Earn PACE credits by watching the webinar and following the provided instructions.