How to calculate "expected loss-of-function variants" for a gene
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2.3 years ago
Shicheng Guo ★ 8.8k

Hi All,

Who can help me to explain how to calculate "expected loss-of-function variants" for a gene? any formula?

a gene with a LoF oe of 0.4 can clearly be interpreted as a gene where only 40% of the expected loss-of-function variants were observed and therefore is likely under selection against LoF variants. In addition, the oe 90% CI allows us to clearly distinguish cases where there is a lot of uncertainty about the constraint for that gene due to sample size.

Thanks

O/E LoF Gnomad • 557 views
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