Author

Matthew ER Butchbach

Alfred I. duPont Hospital for Children

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

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

Aaron L. HalperniD· 1 shared Aditi Chawla· 1 shared Alba Sanchis‐JuaniD· 1 shared Andrew J. ConnelliD· 1 shared Courtney E. FrenchiD· 1 shared David R Bentley· 1 shared F Lucy Raymond· 1 shared Isabelle DeloniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron L. HalpernORCID

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1 paper

Recent·Most cited

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

Xiao Chen, Alba Sanchis‐Juan, Courtney E. French, Andrew J. Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L. Halpern, Ryan J. Taft, NIHR BioResource, David R Bentley, Matthew ER Butchbach, F Lucy Raymond, Michael A. Eberle

This paper develops a method to accurately determine SMN1 and SMN2 copy numbers from whole-genome sequencing data, enabling SMA diagnosis and carrier screening with high precision and recall.

Genetics in Medicine · Feb 18, 2020Peer-reviewedGenetic & Genomic Medicine