Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

doi:10.1016/j.gim.2024.101213

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Article

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024

Stenton Sarah L, Pejaver Vikas, Bergquist Timothy, Biesecker Leslie G, Byrne Alicia B, Nadeau Emily A W, Greenblatt Marc S, Harrison Steven M, Tavtigian Sean V, Radivojac Predrag, Brenner Steven E, O'Donnell-Luria Anne

Abstract excerpt

PURPOSE: To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the ClinGen-calibrated PP3/BP4 computational recommendations. METHODS: Missense variants from the genome sequences of 300 probands from the Rare Genomes Project with suspected rare disease were analyzed using computational prediction tools that were able to reach...

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PMID: 39030733
DOI: 10.1016/j.gim.2024.101213
PMCID: PMC11560577

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