Publications:

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Polympact: exploring functional relations among common human genetic variants.

Nucleic Acids Research

Valentini, Samuel S; Gandolfi, Francesco F; Carolo, Mattia M; Dalfovo, Davide D; Pozza, Lara L; Romanel, Alessandro A

Publication Date: 2022-02-22

Variant appearance in text: rs13195401

PubMed Link: 35061909

Variant Present in the following documents:

• Main text
• gkac024.pdf

View BVdb publication page

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Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry

Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y

Publication Date: 2019-01-31

Variant appearance in text: rs13195401

PubMed Link: 30705251

Variant Present in the following documents:

• Main text
• 41398_2019_Article_398.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs13195401

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs13195401

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 8
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 7

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs13195401

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.

Bioinformatics (Oxford, England)

Lee, Donghyung D; Williamson, Vernell S VS; Bigdeli, T Bernard TB; Riley, Brien P BP; Fanous, Ayman H AH; Vladimirov, Vladimir I VI; Bacanu, Silviu-Alin SA

Publication Date: 2015-04-15

Variant appearance in text: rs13195401

PubMed Link: 25505091

Variant Present in the following documents:

• Main text
• btu816.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: rs13195401

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs13195401

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5

View BVdb publication page

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