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Research Article

Next-Generation Sequencing of Human Mitochondrial Reference Genomes Uncovers High Heteroplasmy Frequency

  • Maria Ximena Sosa equal contributor,

    equal contributor Contributed equally to this work with: Maria Ximena Sosa, I. K. Ashok Sivakumar

    Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

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  • I. K. Ashok Sivakumar equal contributor,

    equal contributor Contributed equally to this work with: Maria Ximena Sosa, I. K. Ashok Sivakumar

    Affiliations: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America, Johns Hopkins University Applied Physics Laboratory, Laurel, Maryland, United States of America

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  • Samantha Maragh,

    Affiliations: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America, National Institute of Standards and Technology, Gaithersburg, Maryland, United States of America

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  • Vamsi Veeramachaneni,

    Affiliation: Strand Life Sciences, Bangalore, India

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  • Ramesh Hariharan,

    Affiliation: Strand Life Sciences, Bangalore, India

    X
  • Minothi Parulekar,

    Affiliation: Strand Life Sciences, Bangalore, India

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  • Karin M. Fredrikson,

    Affiliation: Roche Diagnostics, Indianapolis, Indiana, United States of America

    X
  • Timothy T. Harkins,

    Affiliations: Roche Diagnostics, Indianapolis, Indiana, United States of America, Life Technologies, Beverly, Massachusetts, United States of America

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  • Jeffrey Lin,

    Affiliation: Johns Hopkins University Applied Physics Laboratory, Laurel, Maryland, United States of America

    X
  • Andrew B. Feldman,

    Affiliation: Johns Hopkins University Applied Physics Laboratory, Laurel, Maryland, United States of America

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  • Pramila Tata,

    Affiliation: Strand Life Sciences, Bangalore, India

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  • Georg B. Ehret,

    Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

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  • Aravinda Chakravarti mail

    aravinda@jhmi.edu

    Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America

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  • Published: October 25, 2012
  • DOI: 10.1371/journal.pcbi.1002737

About the Authors

Maria Ximena Sosa, I. K. Ashok Sivakumar, Samantha Maragh, Georg B. Ehret, Aravinda Chakravarti
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America
I. K. Ashok Sivakumar, Jeffrey Lin, Andrew B. Feldman
Johns Hopkins University Applied Physics Laboratory, Laurel, Maryland, United States of America
Samantha Maragh
National Institute of Standards and Technology, Gaithersburg, Maryland, United States of America
Vamsi Veeramachaneni, Ramesh Hariharan, Minothi Parulekar, Pramila Tata
Strand Life Sciences, Bangalore, India
Karin M. Fredrikson, Timothy T. Harkins
Roche Diagnostics, Indianapolis, Indiana, United States of America
Timothy T. Harkins
Life Technologies, Beverly, Massachusetts, United States of America

Corresponding Author

Email: aravinda@jhmi.edu

Competing Interests

SM: I have read the journal's policy and have the following conflict: Certain commercial equipment or materials are identified in this report to specify adequately the experimental procedures. Such identification does not imply recommendation or endorsement by the National Institute of Standards and Technology, nor does it imply that the materials or equipment identified are necessarily the best available for the purpose.

Author Contributions

Conceived and designed the experiments: MXS IKAS TTH GBE AC. Performed the experiments: MXS. Analyzed the data: MXS IKAS SM. Contributed reagents/materials/analysis tools: VV RH MP KMF TTH JL ABF PT AC. Wrote the paper: MXS IKAS AC. Contributed equally to this work: MXS IKAS Designed the software used in analysis: IKAS VV ABF.