Author

Alina L. Li

Massachusetts Institute of Technology

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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Bioinformatics· 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

Ahmad Al KhleifatiD· 1 shared Alan Michael PittmaniD· 1 shared Aleksey ShatunoviD· 1 shared Ammar Al‐ChalabiiD· 1 shared Ashley JonesiD· 1 shared Bradley N. SmithiD· 1 shared Bryan R. LajoieiD· 1 shared Catherine ReevesiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Ahmad Al KhleifatORCID

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1 paper

Recent·Most cited

Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw, Mitchell A. Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S. Ajay, Vani Rajan, Bryan R. Lajoie, Nathan Johnson, Zoya Kingsbury, Sean Humphray, Raymond D. Schellevis, William J. Brands, Matt C. Baker, , Michael A. Eberle

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.

Genome Research · Nov 1, 2017Peer-reviewedBioinformatics