Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: A16Y

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: MSH6: A16Y

PubMed Link: 31844290

Variant Present in the following documents:

• NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 36

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Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication.

Genome Research

Shinbrot, Eve E; Henninger, Erin E EE; Weinhold, Nils N; Covington, Kyle R KR; Göksenin, A Yasemin AY; Schultz, Nikolaus N; Chao, Hsu H; Doddapaneni, HarshaVardhan H; Muzny, Donna M DM; Gibbs, Richard A RA; Sander, Chris C; Pursell, Zachary F ZF; Wheeler, David A DA

Publication Date: 2014-11

Variant appearance in text: MSH6: A16Y

PubMed Link: 25228659

Variant Present in the following documents:

• Main text
• 1740.pdf

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Polymerase ɛ (POLE) mutations in endometrial cancer: clinical outcomes and implications for Lynch syndrome testing.

Cancer

Billingsley, Caroline C CC; Cohn, David E DE; Mutch, David G DG; Stephens, Julie A JA; Suarez, Adrian A AA; Goodfellow, Paul J PJ

Publication Date: 2015-02-01

Variant appearance in text: MSH6: A16Y

PubMed Link: 25224212

Variant Present in the following documents:

• Main text

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