Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL3A1: 951+5G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Genome Medicine

Yen, Jennifer L JL; Garcia, Sarah S; Montana, Aldrin A; Harris, Jason J; Chervitz, Stephen S; Morra, Massimo M; West, John J; Chen, Richard R; Church, Deanna M DM

Publication Date: 2017-01-26

Variant appearance in text: rs587779422

PubMed Link: 28122645

Variant Present in the following documents:

• Main text
• 13073_2016_Article_396.pdf

View BVdb publication page