Author

Matt C. Baker

Mayo ClinicORCID 0009-0001-2691-5757Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:GWAS / association mapping· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Marka van BlitterswijkiD· 2 shared Adam L. BoxeriD· 1 shared Ahmad Al KhleifatiD· 1 shared Alan Michael PittmaniD· 1 shared Aleksey ShatunoviD· 1 shared Alexis P. OddiiD· 1 shared Alina L. Li· 1 shared Alissa L. NanaiD· 1 shared

Activity by Year

2017-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Marka van BlitterswijkORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 25, 2025

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

Cyril P. Pottier, Fahri Küçükali, Matt C. Baker…·Edward B. Lee

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

24 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsGenome ResearchPeer-reviewedNov 1, 2017

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

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw…·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.

388 citations

humanwhole-genome sequencing

𝕏 PostBluesky