Publications:

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American Journal Of Human Genetics

Shah, Naisha N; Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Sainger, Rachana R; Caskey, C Thomas CT; Venter, J Craig JC; Telenti, Amalio A

Publication Date: 2018-04-05

Variant appearance in text: rs199473283

PubMed Link: 29625023

Variant Present in the following documents:

• Main text

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199473283

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine

Jamuar, Saumya Shekhar SS; Kuan, Jyn Ling JL; Brett, Maggie M; Tiang, Zenia Z; Tan, Wilson Lek Wen WL; Lim, Jiin Ying JY; Liew, Wendy Kein Meng WK; Javed, Asif A; Liew, Woei Kang WK; Law, Hai Yang HY; Tan, Ee Shien ES; Lai, Angeline A; Ng, Ivy I; Teo, Yik Ying YY; Venkatesh, Byrappa B; Reversade, Bruno B; Tan, Ene Choo EC; Foo, Roger R

Publication Date: 2016-03

Variant appearance in text: SCN5A: Arg1625Pro; rs199473283

PubMed Link: 27077130

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page