Publications:

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: TTN: L28053F; rs1194981313

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: TTN: L28053F

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: TTN: L28053F

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page