Publications:

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 5074+1751G>A; rs8176242

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs8176242

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: rs8176242

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

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Genetic predictors of taxane-induced neurotoxicity in a SWOG phase III intergroup adjuvant breast cancer treatment trial (S0221).

Breast Cancer Research And Treatment

Sucheston, Lara E LE; Zhao, Hua H; Yao, Song S; Zirpoli, Gary G; Liu, Song S; Barlow, William E WE; Moore, Halle C F HC; Thomas Budd, G G; Hershman, Dawn L DL; Davis, Warren W; Ciupak, Gregory L GL; Stewart, James A JA; Isaacs, Claudine C; Hobday, Timothy J TJ; Salim, Muhammad M; Hortobagyi, Gabriel N GN; Gralow, Julie R JR; Livingston, Robert B RB; Albain, Kathy S KS; Hayes, Daniel F DF; Ambrosone, Christine B CB

Publication Date: 2011-12

Variant appearance in text: rs8176242

PubMed Link: 21766209

Variant Present in the following documents:

• Main text

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The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies.

Bmc Genetics

Pereira, Lutécia H Mateus LH; Pineda, Marbin A MA; Rowe, William H WH; Fonseca, Libia R LR; Greene, Mark H MH; Offit, Kenneth K; Ellis, Nathan A NA; Zhang, Jinghui J; Collins, Andrew A; Struewing, Jeffery P JP

Publication Date: 2007-10-04

Variant appearance in text: rs8176242

PubMed Link: 17916242

Variant Present in the following documents:

• Main text
• 1471-2156-8-68.pdf

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