Article

Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity

2025-03-25

Abstract excerpt

<h4>Background</h4> Accurate interpretation of genetic variants requires a quantitative estimate of how likely a variant is to contribute to disease, accounting for both observed and unobserved causal alleles across different inheritance modes. <h4>Methods</h4> We developed a statistical framework that computes genome-wide prior probabilities for variant classification by integrating population allele frequencie...

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Literature Corpus work: 821968e5-d039-5a21-a4c9-58db3f9501bd
DOI: 10.1101/2025.03.25.25324607

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