Author

Timothy Farinholt

Twist Bioscience (United States)ORCID 0000-0003-1889-3102Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Carvalho Claudia· 1 shared Casey Riegler· 1 shared Christine C. Lambert· 1 shared Donna Marie MuznyiD· 1 shared Fritz Joachim SedlazeckiD· 1 shared Geoff Henno· 1 shared Ginger MetcalfiD· 1 shared HarshaVardhan DoddapaneniiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Carvalho Claudia

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 14, 2024

Closing the gap: Solving complex medically relevant genes at scale

Medhat Mahmoud, John Harting, Holly Corbitt…·Fritz Joachim Sedlazeck

The paper introduces a targeted sequencing framework, TADGP, that accurately calls variants in complex medically relevant genes at lower cost than HiFi-WGS, enabling scalable analysis of dark genomic regions.

12 citations

humanwhole-genome sequencing

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