pLoF variants for gnomAD v.4
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16 days ago

Dear biostars community,

For an analysis, I would like to have the predicted Loss of Function (pLoF) variants for the grch38 human reference. In gnomAD v2 there was the file named: gnomad.v2.1.1.all_lofs.txt.bgz found at downloads page. A line, of this file, contains the variant that is predicted to be LoF.

Header and the first two lines of the file, follow as quick-example:

chrom pos ref alt most_severe_consequence gene_ids gene_symbols transcript_ids

1 69456 C CCTACA frameshift_variant ENSG00000186092 OR4F5 ENST00000335137

1 69469 ACAATT A frameshift_variant ENSG00000186092 OR4F5 ENST00000335137

Unfortunately, for gnomAD v4. (either v.4.0 or v.4.1), I could find only gnomad.v4.1.constraint_metrics.tsv which aggregates tolerance (or intolerance), to types of variations, for whole transcripts of a gene.

There is such file, the predicted Loss of Function (pLoF) variants for the grch38 human reference, available to be downloaded for gnomAD v4?

Many thanks,

Damianos

gnomAD pLoF variants grch38 • 200 views
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