Loss Of Function known affected genes
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2.2 years ago
cocchi.e89 ▴ 140

Dear all,

I’m trying to figure out if there is a rapid way to assess this point:

the ACMG guidelines (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/) for clinical interpretation of variants state: “Null variant (nonsense, frameshift, canonical +/−1 or 2 splice sites, initiation codon, single or multi-exon deletion) in a gene where loss of function (LOF) is a known mechanism of disease”.

How can you easily assess this characteristics for a list of genes you’re investigating?

Thanks a lot in advance for any help!!

lof variants acmg clinical annotation • 461 views
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