Author

S.S Rich

University of Virginia

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Chunyu LiuiD· 1 shared Dan E. ArkingiD· 1 shared Daniela PuiuiD· 1 shared Eric BoerwinkleiD· 1 shared Jerome I. RotteriD· 1 shared Jessica L. FettermaniD· 1 shared Joost VerlouwiD· 1 shared Kent D. TayloriD· 1 shared

Activity by Year

2022-2022 · 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

1 shared paperGenetic & Genomic Medicine

Chunyu LiuORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing Data

Stephanie L. Battle, Daniela Puiu, TOPMed mtDNA Working Group, Joost Verlouw, Linda Broer, Eric Boerwinkle, Kent D. Taylor, Jerome I. Rotter, S.S Rich, Megan L. Grove, Nathan Pankratz, Jessica L. Fetterman, Chunyu Liu, Dan E. Arking

This paper presents a bioinformatics pipeline to estimate mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data, showing improved accuracy in capturing mitochondrial genetic features.

NAR Genomics and Bioinformatics · Mar 31, 2022Peer-reviewedGenetic & Genomic Medicine