Publications:

Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ACY1: 1132C>T

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: ACY1: 1132C>T; R378W; rs148346337

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

Mitochondrial pyruvate import is a metabolic vulnerability in androgen receptor-driven prostate cancer.

Nature Metabolism

Bader, David A DA; Hartig, Sean M SM; Putluri, Vasanta V; Foley, Christopher C; Hamilton, Mark P MP; Smith, Eric A EA; Saha, Pradip K PK; Panigrahi, Anil A; Walker, Christopher C; Zong, Lin L; Martini-Stoica, Heidi H; Chen, Rui R; Rajapakshe, Kimal K; Coarfa, Cristian C; Sreekumar, Arun A; Mitsiades, Nicholas N; Bankson, James A JA; Ittmann, Michael M MM; O'Malley, Bert W BW; Putluri, Nagireddy N; McGuire, Sean E SE

Publication Date: 2019-01

Variant appearance in text: ACY1: Arg378Trp

PubMed Link: 31198906

Variant Present in the following documents:

• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 5
• NIHMS1508495-supplement-Data_Set_1.xlsx, sheet 6

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ACY1: R378W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page