Publications:

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: TERT: 1812A>G; Ala604=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics

McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L

Publication Date: 2017-03-13

Variant appearance in text: rs33959226

PubMed Link: 28288557

Variant Present in the following documents:

• Main text
• 12864_2017_3609_MOESM2_ESM.pdf
• 12864_2017_Article_3609.pdf

View BVdb publication page

Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TERT: 1812A>G; rs33959226

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1

View BVdb publication page

A resequence analysis of genomic loci on chromosomes 1q32.1, 5p15.33, and 13q22.1 associated with pancreatic cancer risk.

Pancreas

Parikh, Hemang H; Jia, Jinping J; Zhang, Xijun X; Chung, Charles C CC; Jacobs, Kevin B KB; Yeager, Meredith M; Boland, Joseph J; Hutchinson, Amy A; Burdett, Laura L; Hoskins, Jason J; Risch, Harvey A HA; Stolzenberg-Solomon, Rachael Z RZ; Chanock, Stephen J SJ; Wolpin, Brian M BM; Petersen, Gloria M GM; Fuchs, Charles S CS; Hartge, Patricia P; Amundadottir, Laufey L

Publication Date: 2013-03

Variant appearance in text: rs33959226

PubMed Link: 23295781

Variant Present in the following documents:

• Main text

View BVdb publication page