HIGHLIGHTS
- who: Torsten Schmenger from the Published in partnership with CEGMR, King Abdulaziz University have published the paper: Never-homozygous genetic variants in healthy populations are potential recessive disease candidates, in the Journal: (JOURNAL)
- what: Custom perl and python scripts used in this work to filter and score the resulting data can be obtained upon reasonable request from the corresponding author.
- how: For each gene the authors considered existing annotations on haplotype insufficiency retrieved from ClinGen7475.
SUMMARY
An analysis of counts of homozygous versus heterozygous among the 201k single nucleotide . . .
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