Publications:

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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: rs3045

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: rs3045

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study identifies a locus associated with rotator cuff injury.

Plos One

Roos, Thomas R TR; Roos, Andrew K AK; Avins, Andrew L AL; Ahmed, Marwa A MA; Kleimeyer, John P JP; Fredericson, Michael M; Ioannidis, John P A JPA; Dragoo, Jason L JL; Kim, Stuart K SK

Publication Date: 2017

Variant appearance in text: rs3045

PubMed Link: 29228018

Variant Present in the following documents:

• Main text
• pone.0189317.pdf

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs3045

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.

Arthritis Research & Therapy

Abhishek, Abhishek A; Doherty, Sally S; Maciewicz, Rose R; Muir, Kenneth K; Zhang, Weiya W; Doherty, Michael M; Valdes, Anna M AM

Publication Date: 2014-01-27

Variant appearance in text: rs3045

PubMed Link: 24467728

Variant Present in the following documents:

• Main text
• ar4453.pdf

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The major roles of DNA polymerases epsilon and delta at the eukaryotic replication fork are evolutionarily conserved.

Plos Genetics

Miyabe, Izumi I; Kunkel, Thomas A TA; Carr, Antony M AM

Publication Date: 2011-12

Variant appearance in text: rs3045

PubMed Link: 22144917

Variant Present in the following documents:

• Main text
• pgen.1002407.pdf

View BVdb publication page

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