Author

TOPMed mtDNA Working Group

Erasmus MC

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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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

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1 shared paperGenetic & Genomic Medicine

Chunyu LiuORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNAR Genomics and BioinformaticsPeer-reviewedMar 31, 2022

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…·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.

49 citations

humanwhole-genome sequencing

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