Publications:

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine

Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2019-12-17

Variant appearance in text: CCT6B: 615-2A>G; rs142360145

PubMed Link: 31847883

Variant Present in the following documents:

• 13073_2019_702_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs142360145

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page