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Journal of Personalized Medicine, Volume 6, Issue 1

2016 March - 13 articles

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Articles (13)

  • Article
  • Open Access
26 Citations
12,135 Views
10 Pages

Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine

  • Ellen A. Tsai,
  • Rimma Shakbatyan,
  • Jason Evans,
  • Peter Rossetti,
  • Chet Graham,
  • Himanshu Sharma,
  • Chiao-Feng Lin and
  • Matthew S. Lebo

27 February 2016

Effective implementation of precision medicine will be enhanced by a thorough understanding of each patient’s genetic composition to better treat his or her presenting symptoms or mitigate the onset of disease. This ideally includes the sequence info...

  • Article
  • Open Access
18 Citations
11,449 Views
9 Pages

27 February 2016

Partners HealthCare Personalized Medicine (PPM) is a center within the Partners HealthCare system (founded by Massachusetts General Hospital and Brigham and Women’s Hospital) whose mission is to utilize genetics and genomics to improve the care of pa...

  • Article
  • Open Access
48 Citations
11,543 Views
11 Pages

The Biobank Portal for Partners Personalized Medicine: A Query Tool for Working with Consented Biobank Samples, Genotypes, and Phenotypes Using i2b2

  • Vivian S. Gainer,
  • Andrew Cagan,
  • Victor M. Castro,
  • Stacey Duey,
  • Bhaswati Ghosh,
  • Alyssa P. Goodson,
  • Sergey Goryachev,
  • Reeta Metta,
  • Taowei David Wang and
  • Shawn N. Murphy
  • + 1 author

26 February 2016

We have designed a Biobank Portal that lets researchers request Biobank samples and genotypic data, query associated electronic health records, and design and download datasets containing de-identified attributes about consented Biobank subjects. Thi...

  • Article
  • Open Access
8 Citations
8,555 Views
10 Pages

26 February 2016

The Translational Genomics Core (TGC) at Partners Personalized Medicine (PPM) serves as a fee-for-service core laboratory for Partners Healthcare researchers, providing access to technology platforms and analysis pipelines for genomic, transcriptomic...

  • Article
  • Open Access
19 Citations
8,785 Views
17 Pages

Serotonin 2A Receptor SNP rs7330461 Association with Treatment Response to Pomaglumetad Methionil in Patients with Schizophrenia

  • Laura K. Nisenbaum,
  • AnnCatherine M. Downing,
  • Fangyi Zhao,
  • Brian A. Millen,
  • Leanne Munsie,
  • Bruce J. Kinon,
  • David H. Adams,
  • Juan Carlos Gomez and
  • Michelle Ann Penny

5 February 2016

This study aims to confirm the initial pharmacogenetic finding observed within the clinical proof-of-concept trial of an enhanced response to treatment with pomaglumetad methionil (LY2140023 monohydrate) in Caucasian schizophrenia patients homozygous...

  • Communication
  • Open Access
13 Citations
11,174 Views
7 Pages

27 January 2016

Over the last decade, the field of molecular diagnostics has undergone tremendous transformation, catalyzed by the clinical implementation of next generation sequencing (NGS). As technical capabilities are enhanced and current limitations are address...

  • Technical Note
  • Open Access
17 Citations
10,192 Views
6 Pages

The Information Technology Infrastructure for the Translational Genomics Core and the Partners Biobank at Partners Personalized Medicine

  • Natalie Boutin,
  • Ana Holzbach,
  • Lisa Mahanta,
  • Jackie Aldama,
  • Xander Cerretani,
  • Kevin Embree,
  • Irene Leon,
  • Neeta Rathi and
  • Matilde Vickers

21 January 2016

The Biobank and Translational Genomics core at Partners Personalized Medicine requires robust software and hardware. This Information Technology (IT) infrastructure enables the storage and transfer of large amounts of data, drives efficiencies in the...

  • Article
  • Open Access
10 Citations
9,555 Views
9 Pages

Information Technology Support for Clinical Genetic Testing within an Academic Medical Center

  • Samuel Aronson,
  • Lisa Mahanta,
  • Lei Lei Ros,
  • Eugene Clark,
  • Lawrence Babb,
  • Michael Oates,
  • Heidi Rehm and
  • Matthew Lebo

20 January 2016

Academic medical centers require many interconnected systems to fully support genetic testing processes. We provide an overview of the end-to-end support that has been established surrounding a genetic testing laboratory within our environment, inclu...

  • Feature Paper
  • Article
  • Open Access
24 Citations
9,922 Views
10 Pages

An eMERGE Clinical Center at Partners Personalized Medicine

  • Jordan W. Smoller,
  • Elizabeth W. Karlson,
  • Robert C. Green,
  • Sekar Kathiresan,
  • Daniel G. MacArthur,
  • Michael E. Talkowski,
  • Shawn N. Murphy and
  • Scott T. Weiss

20 January 2016

The integration of electronic medical records (EMRs) and genomic research has become a major component of efforts to advance personalized and precision medicine. The Electronic Medical Records and Genomics (eMERGE) network, initiated in 2007, is an N...

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J. Pers. Med. - ISSN 2075-4426