CONP Portal | Dataset


Primary Lateral Sclerosis Whole Genome Sequencing
Creators: The Montreal Neurological Institute and Hospital Bioinformatics Core
Principal Investigator: The Montreal Neurological Institute and Hospital Bioinformatics Core
Contact: The Montreal Neurological Institute and Hospital Bioinformatics Core, neurobioinfo@mcgill.ca
Licenses: CC BY-SA
Version: 1.0
Size: 815.2 GB
No of Files: 130
No of Subjects: 13
Project Landing Page: https://cbigr.loris.ca/
Metadata file: DATS.json
Is About: Homo sapiens
Description:
Whole genome sequencing data from 13 individuals with Primary Lateral Sclerosis recruited at the Montreal Neurological Institute and Hospital. Recruiting clinician was Dr. Guy Rouleau. Sequencing reads were processed using a Dragen pipeline.

Dataset README information

README.md

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

  • 815.174 GB
  • BAM, and gVCF/VCF files
  • 13 Subjects

METHODS

-- Recruitment --

Patients diagnosed with primary lateral sclerosis 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 genome sequencing was performed using either the Illumina NovaSeq 6000 or the Illumina HiSeq. Sequencing reads were processed using a Dragen pipeline.

Sequencing details:

                                Machine-pairing Sequencing_center  Run       Date
                 Illumina NovaSeq 6000 S4 PE150                IC 1515 2021-03-22
     Illumina_HiSeq_Paired-IC-Exome_WhoGen-merge               IC  NaN 2014-01-16
     Illumina NovaSeq 6000 S4 PE150 - 35M reads                IC 1521 2021-03-29
     Illumina NovaSeq 6000 S4 PE150 - 35M reads                IC 1530 2021-04-14
     Illumina NovaSeq 6000 S4 PE150 - 35M reads                IC 1545 2021-05-05