Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Functional & Integrative Genomics
Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK
Publication Date: 2023-03-27
Variant appearance in text: NOTCH1: 7261G>A; rs373874935
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: NOTCH1: V2421M; rs373874935