Author

Ascia Eskin

Primary ORCID profile (0000-0002-3975-3734 · 1 paper)Unclaimed ORCID profile · follow to get notified of new preprints

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Ascia EskiniD1 paper

Biology Disciplines

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Genetics· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:clinical cohort / trial· 1 Research Focus:drug response / drug discovery· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Stanley F Nelson· 2 shared Ake Lu· 1 shared Ann S Martin· 1 shared Bogdan Pasaniuc· 1 shared Bruno ReversadeiD· 1 shared Cheri A Silverstein Fadlon· 1 shared Gleb KichaeviD· 1 shared Hane LeeiD· 1 shared

Activity by Year

2014-2014 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersPhysiology

Stanley F Nelson

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2 papers

Recent·Most cited

Online Self-Report Data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits

Richard T Wang, Cheri A Silverstein Fadlon, J Wes Ulm, Ivana Jankovic, Ascia Eskin, Ake Lu, Vanessa Miller, Rita M Cantor, Ning Li, Robert Elashoff, Ann S Martin, Holly Peay, Stanley F Nelson

This study uses online self-report data from DuchenneConnect to show that corticosteroid use delays loss of ambulation in DMD, with deflazacort more effective than prednisone.

bioRxiv · Dec 8, 2014Physiology

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

Robert P Brown, Hane Lee, Ascia Eskin, Gleb Kichaev, Kirk E Lohmueller, Bruno Reversade, Stanley F Nelson, Bogdan Pasaniuc

This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.

bioRxiv · Oct 4, 2014Genetics