Author

Alicia Scocchia

Illumina (United States)ORCID 0000-0003-1974-6251Unclaimed 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· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aditi Chawla· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared Amirah Khouzam· 1 shared Andrew M. GrossiD· 1 shared Bryan R. LajoieiD· 1 shared Carolyn M. BrowniD· 1 shared David Bentley· 1 shared

Activity by Year

2018-2018 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Aditi Chawla

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1 paper

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedOct 3, 2018

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan…·Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

115 citationstop 2%

humanwhole-genome sequencing

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