Resources

Github

Publications

01/12/2023

Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

12/02/2021

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

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Longchamps, R.J., Yang, S.Y., Castellani, C.A. et al. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet (2021). https://doi.org/10.1007/s00439-021-02394-w

11/30/2021

Mitochondrial DNA copy number, metabolic syndrome, and insulin sensitivity: Insights from the Sugar, Hypertension, and Physical Exercise Studies

link

08/28/2018

A comprehensive evaluation of the genetic architecture of sudden cardiac arrest

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Ashar FN, Mitchell RN, Albert CM, et al. A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J. 2018;39(44):3961-3969. doi:10.1093/eurheartj/ehy474

07/25/2018

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

van Setten, J., Brody, J.A., Jamshidi, Y. et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun 9, 2904 (2018). https://doi.org/10.1038/s41467-018-04766-9

10/24/2017

Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder

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Andrews, S.V., Ellis, S.E., Bakulski, K.M. et al. Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder. Nat Commun 8, 1011 (2017). https://doi.org/10.1038/s41467-017-00868-y

5/24/2016

Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia

SCZBPDAUT

Ellis, S E et al. “Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.” Translational psychiatry vol. 6,5 e817. 24 May. 2016, doi:10.1038/tp.2016.87

12/10/2014

Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

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Gupta, S., Ellis, S., Ashar, F. et al. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat Commun 5, 5748 (2014). https://doi.org/10.1038/ncomms6748

Data

Gene Lists

06/22/2014

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

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Arking, D., Pulit, S., Crotti, L. et al. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet 46, 826–836 (2014). https://doi.org/10.1038/ng.3014

  • QTIGC Summary Stats: Summary results from the QT interval meta-analysis, including metabochip data.

12/17/2013

RNA-Seq optimization with eQTL gold standards

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Ellis, S.E., Gupta, S., Ashar, F.N. et al. RNA-Seq optimization with eQTL gold standards. BMC Genomics 14, 892 (2013). https://doi.org/10.1186/1471-2164-14-892

11/14/2010

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

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Sotoodehnia N, Isaacs A, de Bakker PI, et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010;42(12):1068-1076. doi:10.1038/ng.716

Software

HP : Heteroplasmy Pipeline

  • Pipeline to estimate mitochondrial copy number (mtDNA-CN) and heteroplasmy

FAST

  • Application for efficiently running several gene based analysis methods simultaneously
  • Developed with the Bader lab