Author

Sejal Salvi

Baylor College of Medicine

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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Genomics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Research Focus:genome assembly· 1

Frequent Co-Authors

Richard A. GibbsiD· 3 shared Donna Marie MuznyiD· 2 shared Fritz Joachim SedlazeckiD· 2 shared Ginger MetcalfiD· 2 shared HarshaVardhan DoddapaneniiD· 2 shared Hua Min SheniD· 2 shared Kavya KottapalliiD· 2 shared Qingchang MengiD· 2 shared

Activity by Year

2022-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Richard A. GibbsORCID

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3 papers

Recent·Most cited

Structural variation across 138,134 samples in the TOPMed consortium

Goo Jun, Adam C. English, Ginger Metcalf, Jianzhi Yang, Mark Chaisson, Nathan Pankratz, Vipin K. Menon, William J. Salerno, Olga A. Krasheninina, Albert V. Smith, John Lane, Tom W. Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, , Fritz Joachim Sedlazeck

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

bioRxiv · Jan 25, 2023 · PreprintGenomics

Genome sequencing in the Parkinson disease clinic

Emily J. Hill, Laurie A. Robak, Rami Al‐Ouran, Jennifer Deger, Jamie C Fong, Paul J. Vandeventer, Emily Schulman, Sindhu Rao, Hiba Saade, Joseph M. Savitt, Rainer von Coelln, Neeja Desai, HarshaVardhan Doddapaneni, Sejal Salvi, Shannon Dugan, , Joshua M Shulman

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

Neurology Genetics · Jun 20, 2022Peer-reviewedGenetic & Genomic Medicine

Fully resolved assembly of Cryptosporidium parvum

Vipin K. Menon, Pablo C. Okhuysen, Cynthia L. Chappell, Medhat Mahmoud, Medhat Mahmoud, Qingchang Meng, HarshaVardhan Doddapaneni, Vanesa Vee, Yi Han, Sejal Salvi, Sravya Venkata Bhamidipati, Kavya Kottapalli, George Weissenberger, Hua Min Shen, Matthew Clayton Ross, , Fritz Joachim Sedlazeck

The paper presents a high-quality, complete reference genome for Cryptosporidium parvum using Oxford Nanopore and Illumina reads, enabling comprehensive genomic studies.

GigaScience · Jan 1, 2022Peer-reviewedGenomics