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Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
Pillalamarri, Vamsee; Shi, Wen; Say, Conrad; Yang, Stephanie; Lane, John; Guallar, Eliseo; Pankratz, Nathan; Arking, Dan E.
Affiliation
  • Pillalamarri V; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Shi W; Predoctoral Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Say C; Maryland Genetics Epidemiology and Medicine Training Program, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
  • Yang S; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Lane J; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Guallar E; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pankratz N; Vertex Pharmaceuticals, Inc., Boston, MA 02210, USA.
  • Arking DE; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
HGG Adv ; 4(1): 100147, 2023 01 12.
Article in En | MEDLINE | ID: mdl-36311265
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / DNA Copy Number Variations Limits: Child / Humans Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / DNA Copy Number Variations Limits: Child / Humans Language: En Journal: HGG Adv Year: 2023 Document type: Article Affiliation country: