We are excited to announce the NCBI Allele Frequency Aggregator (ALFA) Release 2 (version 20201027095038) as one of the largest and most comprehensive aggregated variant datasets with allele frequency available as open-access. This release contains 79 dbGaP studies that included 192 thousand subjects and 5.8 trillion combined genotypes that generated allele frequency for 904 million variants with 316 million novel ones, previously unknown in dbSNP (Build 154).
Also, ALFA Release 2 doubles the number of total subjects from Release 1 with a significant increase in the number of subjects with African (two fold) and Asian (10 fold) ancestry. In total, allele frequencies are available for 12 populations, including European, Hispanic, African, Asian, and other diverse population ancestries.
This massive amount of data is available as open-access from NCBI for variant interpretation and analysis. It is accessible by web search, FTP download, retrieval using API, and TrackHubs for genomic browsers. Please visit the ALFA homepage for more information about the project, releases, tutorials, and past presentations.
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