NCBI Minute: Human Population Genetic Data at NCBI
Presented Dec. 4, 2019.
Population variation frequency information can help assess the potential impact of human genetic variants. This webinar introduces you to the population variation datasets at NCBI such as 1000 Genomes, ExAC, GnomAD, and TopMed that are currently included on dbSNP records. You will learn how to find the data, and how you can use this information to interpret and prioritize variants for further study. You will also see a preview a new initiative, the dbGaP Allele Frequency Aggregator (ALFA), that is based on more than 150,000 subjects in 60 dbGaP studies. The initial ALFA public release will include population allele frequencies for more than 500 million known genetic variations and more than 20 million novel variations. We will provide the ALFA data on dbSNP and ClinVar records, on the FTP site for bulk download, and the SPDI APIs for scripting access.