Publications:

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

Genome Medicine

De La Vega, Francisco M FM; Chowdhury, Shimul S; Moore, Barry B; Frise, Erwin E; McCarthy, Jeanette J; Hernandez, Edgar Javier EJ; Wong, Terence T; James, Kiely K; Guidugli, Lucia L; Agrawal, Pankaj B PB; Genetti, Casie A CA; Brownstein, Catherine A CA; Beggs, Alan H AH; Löscher, Britt-Sabina BS; Franke, Andre A; Boone, Braden B; Levy, Shawn E SE; Õunap, Katrin K; Pajusalu, Sander S; Huentelman, Matt M; Ramsey, Keri K; Naymik, Marcus M; Narayanan, Vinodh V; Veeraraghavan, Narayanan N; Billings, Paul P; Reese, Martin G MG; Yandell, Mark M; Kingsmore, Stephen F SF

Publication Date: 2021-10-14

Variant appearance in text: RET: 712G>T; Glu238Ter

PubMed Link: 34645491

Variant Present in the following documents:

• 13073_2021_965_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: RET: E238X

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

American Journal Of Human Genetics

Kingsmore, Stephen F SF; Cakici, Julie A JA; Clark, Michelle M MM; Gaughran, Mary M; Feddock, Michele M; Batalov, Sergey S; Bainbridge, Matthew N MN; Carroll, Jeanne J; Caylor, Sara A SA; Clarke, Christina C; Ding, Yan Y; Ellsworth, Katarzyna K; Farnaes, Lauge L; Hildreth, Amber A; Hobbs, Charlotte C; James, Kiely K; Kint, Cyrielle I CI; Lenberg, Jerica J; Nahas, Shareef S; Prince, Lance L; Reyes, Iris I; Salz, Lisa L; Sanford, Erica E; Schols, Peter P; Sweeney, Nathaly N; Tokita, Mari M; Veeraraghavan, Narayanan N; Watkins, Kelly K; Wigby, Kristen K; Wong, Terence T; Chowdhury, Shimul S; Wright, Meredith S MS; Dimmock, David D; ,

Publication Date: 2019-10-03

Variant appearance in text: RET: 712G>T; Glu238Ter

PubMed Link: 31564432

Variant Present in the following documents:

• Main text

View BVdb publication page