Author

Laura T. Jimenez Barrón

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Han FangiD· 2 shared Yiyang Wu· 2 shared Alan Rope· 1 shared David Mittelman· 1 shared Edward Yang· 1 shared Gareth Highnam· 1 shared Gholson J. LyoniD· 1 shared Gholson Lyon· 1 shared

Activity by Year

2014-2015 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetics

Han FangORCID

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2 papers

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedDec 1, 2015

A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Jason O'Rawe, Yiyang Wu, Alan Rope…·Gholson Lyon

The paper identifies a maternally inherited TAF1 variant in two brothers with severe intellectual disability and distinctive facial features, linking it to a new syndrome.

DOI 10.1016/j.ajhg.2015.11.005

humanwhole-genome sequencing

𝕏 PostBluesky

BioinformaticsbioRxivSep 17, 2014

Reducing INDEL calling errors in whole-genome and exome sequencing data

Han Fang, Yiyang Wu, Giuseppe Narzisi…·Gholson J. Lyon

This study identifies sources of INDEL calling errors in sequencing data and shows that whole-genome sequencing (WGS) outperforms whole-exome sequencing (WES) in accuracy and sensitivity for detecting INDELs.

DOI 10.1186/s13073-014-0089-z

humanwhole-genome sequencing

𝕏 PostBluesky