Author

Alex Chapin

ARUP Laboratories (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 3 Assay:GWAS summary statistics· 3 Organism:human· 3 Approach:statistical model· 3 Research Focus:variant effect prediction· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1

Frequent Co-Authors

Ahmad N. Abou TayouniD· 3 shared Andrea M. OzaiD· 3 shared Andrew J. GriffithiD· 3 shared Andrew R. GrantiD· 3 shared Brandon J. Cushman· 3 shared Hannie KremeriD· 3 shared Heidi L. RehmiD· 3 shared Héla AzaieziD· 3 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Ahmad N. Abou TayounORCID

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Author profile →

3 papers

Recent·Most cited

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher J. Patel, Marina T. DiStefano, Andrea M. Oza, Madeline Y. Hughes, Emma H. Wilcox, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Kiyomitsu Nara, Margaret A. Kenna, , Kejian Zhang

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

Genetics in Medicine · Jul 6, 2021Peer-reviewedGenetic & Genomic Medicine

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza, Rebecca K. Siegert, Andrew R. Grant, Madeline Y. Hughes, Brandon J. Cushman, Héla Azaiez, Kevin T. A. Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret A. Kenna, , Keijan Zhang

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.

Genetics in Medicine · Mar 20, 2019Peer-reviewedGenomics

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. A. Booth, , Ahmad N. Abou Tayoun

The paper specifies ACMG/AMP variant interpretation guidelines for genetic hearing loss, updating and validating rules through expert curation of 51 variants.

Human Mutation · Oct 11, 2018Peer-reviewedGenetics