/cbig_dystonia_wes

OVERVIEW

The Montreal Neurological Institute and Hospital (The Neuro) Bioinformatics Core is responsible for processing, consolidating, and storing the genomics data generated for the range of studies being performed by the institute’s researchers and clinicians. As such, the data are sorted into sets based on the sequencing methodology used and the phenotype of study. The Neuro's commitment to open science practices have resulted in all of the data being made publicly available through the C-BIG initiative, following appropriate ethical approvals and the principal investigator(s) consent.

Largely, these genomics datasets were generated for the purposes of novel gene-disease relationship discovery, although other analyses may have also been performed. We recommend contacting the recruiting principal investigator(s), outlined below, for full details regarding the previous use of these datasets.

Dataset contents

  • 74.53043 GB
  • FASTQ files, BAM alignments, and gVCF/VCF files
  • 9 Subjects

METHODS

-- Recruitment --

Patients diagnosed with Dystonia were recruited at The Montreal Neurological Institute and Hospital (The Neuro) in the clinic of Dr. Guy Rouleau. All indivduals provided informed consent.

-- Data Acquisition --

Whole blood was obtained from all individuals and DNA was isolated. Whole exome sequencing was performed using either the Illumina NovaSeq 6000 or the Illumina HiSeq. Sequencing reads were processed using a Burrows-Wheeler Aligner (BWA) alignment, Genome Analysis Toolkit (GATK)/Picard post-alignment, and GATK HaplotypeCaller calling pipeline.

Sequencing details:

                Machine-pairing Sequencing_center  Capture_type_kit       Date
          Illumina_HiSeq_Paired                IC       Exome_SS_V4 2017_10_17
          Illumina_HiSeq_paired                IC       Exome_NG_V3       2015
     Illumina_HiSeq_4000_Paired          Macrogen       Exome_SS_V5 2016_03_08