Author

Angela K. Snow

Huntsman Cancer InstituteORCID 0000-0002-7033-2583Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Bryony A. ThompsoniD· 2 shared Cathryn Koptiuch· 2 shared Deborah Wood NeklasoniD· 2 shared Lisa Cannon‐AlbrightiD· 2 shared Sean V. TavtigianiD· 2 shared Wendy K. KohlmanniD· 2 shared Alison Fraser· 1 shared Amanda GammoniD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetics

Bryony A. ThompsonORCID

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2 papers

Recent·Most cited

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

Bryony A. Thompson, Angela K. Snow, Cathryn Koptiuch, Wendy K. Kohlmann, Ryan Mooney, Sara Johnson, Chad Daniel Huff, Yao Yu, Craig Carl Teerlink, Bing Feng, Deborah Wood Neklason, Lisa Cannon‐Albright, Sean V. Tavtigian

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

Clinical Genetics · May 18, 2020Peer-reviewedGenetics

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

Erin L. Young, Bryony A. Thompson, Deborah Wood Neklason, Angela K. Snow, Matthew A. Firpo, Theresa Louise Werner, Russell Bell, Nykole Sutherland, Ken R. Smith, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh A. Neumayer, , Sean V. Tavtigian

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.

BMC Cancer · Jun 26, 2018Peer-reviewedGenetics