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Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies.

Yun R Li | Jessica van Setten | Shefali S Verma | Yontao Lu | Michael V Holmes | Hui Gao | Monkol Lek | Nikhil Nair | Hareesh Chandrupatla | Baoli Chang | Konrad J Karczewski | Chanel Wong | Maede Mohebnasab | Eyas Mukhtar | Randy Phillips | Vinicius Tragante | Cuiping Hou | Laura Steel | Takesha Lee | James Garifallou | Toumy Guettouche | Hongzhi Cao | Weihua Guan | Aubree Himes | Jacob van Houten | Andrew Pasquier | Reina Yu | Elena Carrigan | Michael B Miller | David Schladt | Abdullah Akdere | Ana Gonzalez | Kelsey M Llyod | Daniel McGinn | Abhinav Gangasani | Zach Michaud | Abigail Colasacco | James Snyder | Kelly Thomas | Tiancheng Wang | Baolin Wu | Alhusain J Alzahrani | Amein K Al-Ali | Fahad A Al-Muhanna | Abdullah M Al-Rubaish | Samir Al-Mueilo | Dimitri S Monos | Barbara Murphy | Kim M Olthoff | Cisca Wijmenga | Teresa Webster | Malek Kamoun | Suganthi Balasubramanian | Matthew B Lanktree | William S Oetting | Pablo Garcia-Pavia | Daniel G MacArthur | Paul I W de Bakker | Hakon Hakonarson | Kelly A Birdwell | Pamala A Jacobson | Marylyn D Ritchie | Folkert W Asselbergs | Ajay K Israni | Abraham Shaked | Brendan J Keating
Genome medicine | 2015

In addition to HLA genetic incompatibility, non-HLA difference between donor and recipients of transplantation leading to allograft rejection are now becoming evident. We aimed to create a unique genome-wide platform to facilitate genomic research studies in transplant-related studies. We designed a genome-wide genotyping tool based on the most recent human genomic reference datasets, and included customization for known and potentially relevant metabolic and pharmacological loci relevant to transplantation.

Pubmed ID: 26423053 RIS Download

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Associated grants

  • Agency: NIAID NIH HHS, United States
    Id: U01 AI063589
  • Agency: NIAID NIH HHS, United States
    Id: UM1 AI109565
  • Agency: NIAID NIH HHS, United States
    Id: U01-AI63589
  • Agency: NIAID NIH HHS, United States
    Id: U19 AI070119
  • Agency: NIAID NIH HHS, United States
    Id: UM1AI109565
  • Agency: NIDDK NIH HHS, United States
    Id: U01-DK062494
  • Agency: NIDDK NIH HHS, United States
    Id: U01 DK062494
  • Agency: NIAID NIH HHS, United States
    Id: U19-AI070119
  • Agency: NHGRI NIH HHS, United States
    Id: U01 HG006830

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Human Gene Mutation Database (tool)

RRID:SCR_001621

Curated database of known (published) gene lesions responsible for human inherited disease.

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PharmGKB (tool)

RRID:SCR_002689

Database and central repository for genetic, genomic, molecular and cellular phenotype data and clinical information about people who have participated in pharmacogenomics research studies. The data includes, but is not limited to, clinical and basic pharmacokinetic and pharmacogenomic research in the cardiovascular, pulmonary, cancer, pathways, metabolic and transporter domains. PharmGKB welcomes submissions of primary data from all research into genes and genetic variation and their effects on drug and disease phenotypes. PharmGKB collects, encodes, and disseminates knowledge about the impact of human genetic variations on drug response. They curate primary genotype and phenotype data, annotate gene variants and gene-drug-disease relationships via literature review, and summarize important PGx genes and drug pathways. PharmGKB is part of the NIH Pharmacogenomics Research Network (PGRN), a nationwide collaborative research consortium. Its aim is to aid researchers in understanding how genetic variation among individuals contributes to differences in reactions to drugs. A selected subset of data from PharmGKB is accessible via a SOAP interface. Downloaded data is available for individual research purposes only. Drugs with pharmacogenomic information in the context of FDA-approved drug labels are cataloged and drugs with mounting pharmacogenomic evidence are listed.

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