Publications:

Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.

Frontiers In Genetics

Khandakji, Mohannad N MN; Mifsud, Borbala B

Publication Date: 2022

Variant appearance in text: TG: 1059del

PubMed Link: 36246618

Variant Present in the following documents:

• Table1.xlsx, sheet 3

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Multi-omic machine learning predictor of breast cancer therapy response.

Nature

Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C

Publication Date: 2022-01

Variant appearance in text: TG: 1058delG

PubMed Link: 34875674

Variant Present in the following documents:

• 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2

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Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Prenatal Diagnosis

Lazarin, Gabriel A GA; Haque, Imran S IS; Evans, Eric A EA; Goldberg, James D JD

Publication Date: 2017-04

Variant appearance in text: TG: 1057delG

PubMed Link: 28166604

Variant Present in the following documents:

• Main text
• PD-37-350.pdf

View BVdb publication page