Author

Carvalho Claudia

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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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

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 Holly CorbittiD· 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

Casey Riegler

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1 paper

Recent·Most cited

Closing the gap: Solving complex medically relevant genes at scale

Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Qingchang Meng, Christine C. Lambert, Siyuan Zhang, Primo A. Baybayan, Geoff Henno, Tina Han, Yi Han, Casey Riegler, Ginger Metcalf, , 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.

medRxiv · Mar 14, 2024 · PreprintGenetic & Genomic Medicine