Publications:

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: DMD: 1554T>A; D518E

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: DMD: 1554T>A; Asp518Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Investigative Ophthalmology & Visual Science

Roberts, Lisa L; Ratnapriya, Rinki R; du Plessis, Morné M; Chaitankar, Vijender V; Ramesar, Raj S RS; Swaroop, Anand A

Publication Date: 2016-11-01

Variant appearance in text: DMD: D518E

PubMed Link: 27898983

Variant Present in the following documents:

• iovs-57-14-17_s03.xlsx, sheet 1

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Microarray-based mutation detection in the dystrophin gene.

Human Mutation

Hegde, Madhuri R MR; Chin, Ephrem L H EL; Mulle, Jennifer G JG; Okou, David T DT; Warren, Stephen T ST; Zwick, Michael E ME

Publication Date: 2008-09

Variant appearance in text: DMD: 1554T>A; D518E

PubMed Link: 18663755

Variant Present in the following documents:

• Main text

View BVdb publication page