Author

Luke Chen

The Alfred HospitalORCID 0000-0001-5119-4974Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Luke Chen1 paper · University of California, Berkeley

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abhishek Malhotra· 2 shared David J. SzmulewicziD· 2 shared Ernest Gerard ButleriD· 2 shared Greta Gillies· 2 shared Haloom RafehiiD· 2 shared Justin L. Read· 2 shared Kate PopeiD· 2 shared Kathy H. C. WuiD· 2 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

Abhishek Malhotra

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 8, 2024

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom Rafehi, Liam G. Fearnley, Justin L. Read…·Paul J. Lockhart

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

1 citation

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 8, 2022

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Haloom Rafehi, Justin L. Read, David J. Szmulewicz…·Paul J. Lockhart

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

175 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky