Publications:

HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 2979C>G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Science (New York, N.Y.)

Bastarache, Lisa L; Hughey, Jacob J JJ; Hebbring, Scott S; Marlo, Joy J; Zhao, Wanke W; Ho, Wanting T WT; Van Driest, Sara L SL; McGregor, Tracy L TL; Mosley, Jonathan D JD; Wells, Quinn S QS; Temple, Michael M; Ramirez, Andrea H AH; Carroll, Robert R; Osterman, Travis T; Edwards, Todd T; Ruderfer, Douglas D; Velez Edwards, Digna R DR; Hamid, Rizwan R; Cogan, Joy J; Glazer, Andrew A; Wei, Wei-Qi WQ; Feng, QiPing Q; Brilliant, Murray M; Zhao, Zhizhuang J ZJ; Cox, Nancy J NJ; Roden, Dan M DM; Denny, Joshua C JC

Publication Date: 2018-03-16

Variant appearance in text: TG: A993A

PubMed Link: 29590070

Variant Present in the following documents:

• Main text

View BVdb publication page