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Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.
Bergquist T, Stenton SL, Nadeau EAW, Byrne AB, Greenblatt MS, Harrison SM, Tavtigian SV, O'Donnell-Luria A, Biesecker LG, Radivojac P, Brenner SE, Pejaver V; ClinGen Sequence Variant Interpretation Working Group. Bergquist T, et al. Among authors: harrison sm. bioRxiv [Preprint]. 2024 Sep 21:2024.09.17.611902. doi: 10.1101/2024.09.17.611902. bioRxiv. 2024. PMID: 39345488 Free PMC article. Preprint.
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau EAW, Greenblatt MS, Harrison SM, Tavtigian SV, Radivojac P, Brenner SE, O'Donnell-Luria A; ClinGen Sequence Variant Interpretation Working Group. Stenton SL, et al. Among authors: harrison sm. Genet Med. 2024 Nov;26(11):101213. doi: 10.1016/j.gim.2024.101213. Epub 2024 Jul 25. Genet Med. 2024. PMID: 39030733
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Gordon AS, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Harrison SM, Hershberger RE, Richards CS, Stewart DR, Martin CL, Miller DT; ACMG Secondary Findings Working Group. Electronic address: [email protected]. Gordon AS, et al. Among authors: harrison sm. Genet Med. 2024 Jul;26(7):101142. doi: 10.1016/j.gim.2024.101142. Epub 2024 May 31. Genet Med. 2024. PMID: 38819344 No abstract available.
230 results