A dataset of estimated heterozygote and carrier couple frequencies for pan-ancestry carrier screening.

Description

Dataset of gnomAD (exomes and genomes v2.1.2, genomes v3.1.1 and joint exomes and genomes v4.1.0) and ClinVar data for autosomal recessive (AR) or X-linked (XL) genes associated with childhood-onset, severe, inherited Mendelian conditions. Files labelled 1n indicates raw data downloaded from joint gnomAD and ClinVar data (using Hail Query Python). Files labelled 2n indicate processed/filtered data, where genes are ranked in descending order of their gene carrier rates in pan-ancestry ("Goldilocks" order) or in their gnomAD ancestry group. Goldilocks order was determined by the maximum gene carrier rate for any of the ten currently available gnomAD ancestry groups.

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