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Article

Phenotype-aware prioritisation of rare Mendelian disease variants.

Trends in genetics : TIG - 1 Dec 2022

Kelly Catherine, Szabo Anita, Pontikos Nikolas, Arno Gavin, Robinson Peter N, Jacobsen Jules O B, Smedley Damian, Cipriani Valentina

Abstract excerpt

A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic odyssey, but performance statistics on real patient data are limited. Here we identify, assess, and compare the...

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PMID: 35934592
DOI: 10.1016/j.tig.2022.07.002
PMCID: PMC9950798

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