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: APC: G1836R; rs766739164

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung using next-generation sequencing technique.

Thoracic Cancer

Manabe, Saki S; Kasajima, Rika R; Murakami, Shuji S; Miyagi, Yohei Y; Yokose, Tomoyuki T; Kondo, Tetsuro T; Saito, Haruhiro H; Ito, Hiroyuki H; Kaneko, Takeshi T; Yamada, Kouzo K

Publication Date: 2020-08

Variant appearance in text: APC: 5506G>A; G1836R

PubMed Link: 32578376

Variant Present in the following documents:

• TCA-11-2262-s003.xlsx, sheet 1

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DNA sequencing of cytopathologically inconclusive EUS-FNA from solid pancreatic lesions suspicious for malignancy confirms EUS diagnosis.

Endoscopic Ultrasound

Plougmann, Julie Isabelle JI; Klausen, Pia P; Toxvaerd, Anders A; Abedi, Armita Armina AA; Kovacevic, Bojan B; Karstensen, John Gásdal JG; Poulsen, Tim Svenstrup TS; Kalaitzakis, Evangelos E; Høgdall, Estrid E; Vilmann, Peter P

Publication Date: 2020

Variant appearance in text: APC: G1836R

PubMed Link: 31552911

Variant Present in the following documents:

• Main text
• EUS-9-37.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: APC: 5506G>A; G1836R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page