Article

Allele age estimators designed for whole genome datasets show only a moderate reduction in performance when applied to whole exome datasets

2024-02-06

Abstract excerpt

Personalized genomics in the healthcare system is becoming increasingly accessible as the costs of sequencing decreases. With the increase in the number of genomes, larger numbers of rare variants are being discovered, leading to important initiatives in identifying the functional impacts in relation to disease phenotypes. One way to characterize these variants is to estimate the time the mutation entered the popu...

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Literature Corpus work: 51d0da1e-7801-5713-adee-a818b51c84ea
DOI: 10.1101/2024.02.01.578465

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