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• A Genome-Wide Association Study in Patients Experiencing Drug-Induced Long-QT Syndrome and/or Torsades de Pointes; A Collaboration Between the NIH Pharmacogenomics Research Network and the RIKEN Yokohama Institute Center for Genomic Medicine

  The goal of this study was to identify genetic risk factors for drug-induced prolongation of the QT interval (diLQT) and the ventricular arrhythmia torsades de pointes (TdP). We conducted a genome-wide association study (GWAS) focusing on subjects with a history of long QT and/or TdP after taking medication. Controls for this study were individuals with a history of cardiac arrhythmias who had begun treatment with potentially QT-prolonging antiarrhythmics. An additional control group of normal volunteers were given ibutilide, a drug with documented proarrhythmic properties. All study participants were recruited and treated/evaluated at Vanderbilt University Medical Center. This study was conducted by the Pharmacogenomics of Arrhythmia Therapy subgroup of the Pharmacogenetics Research Network, a nationwide collaboration of scientists studying the genetic contributions to drug response variability. Genotyping was performed by the RIKEN research institute in Japan using the Illumina 610 Quad Beadchip platform.

  Study phs000331

• Single Cell Transcriptomic Analysis of Cellular Heterogeneity in Human Colorectal Tumours

  1,591 single cells from 11 colorectal cancer patients were profiled using Fluidigm based single cell RNA-seq protocol to characterized cellular heterogeneity of colorectal cancer. 630 single cells from 7 cell lines were profiled similarly to benchmark de novo cell type identification algorithms.

  Dataset EGAD00001002727

• PacBio HiFi sequencing of telobait-captured DNA from 68 patients

  PacBio HiFi sequencing was performed on 68 barcoded patients' genomic DNA after a telobait-capture protocol to enrich for telomeric regions. The sequencing reads of each patient were de-multiplexed and presented as patient-specific PacBio CCS BAM files. There are 56 new samples and 12 repeated samples from run 1.

  Dataset EGAD00001009397

• Targeted capture ctDNA Library CRCQV42Run017-8

  Targeted capture ctDNA Library CRCQV42Run017-8 from patient PBC0001224, plasma 15 month sample

  Dataset EGAD00001010415

• WGS data of neuroblastoma patients

  30 samples of 15 individuals with neuroblastoma tumor, whole genome sequencing

  Dataset EGAD00001006956

• Targeted capture ctDNA Library CRCQV42Run036-11

  Targeted capture ctDNA Library CRCQV42Run036-11 from patient PBC0002826, plasma 15 month sample

  Dataset EGAD00001010593

• Targeted capture ctDNA Library CRCQV42Run043-5

  Targeted capture ctDNA Library CRCQV42Run043-5 from patient PBC0001516, plasma 15 month sample

  Dataset EGAD00001010655

• Targeted capture ctDNA Library CRCQV42Run043-6

  Targeted capture ctDNA Library CRCQV42Run043-6 from patient PBC0001255, plasma 15 month sample

  Dataset EGAD00001010656

• Targeted capture ctDNA Library CRCQV42Run043-4

  Targeted capture ctDNA Library CRCQV42Run043-4 from patient PBC0002294, plasma 15 month sample

  Dataset EGAD00001010654

• HipSci - Healthy Normals - Exome Sequencing - May 2014

  HipSci - Healthy Normals - Exome Sequencing - May 2014

  Dataset EGAD00001000893