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DACs
EGAC00001002576
FRIGE IHG Data Access Committee
Contact Information
Harsh Sheth
harsh.sheth@frige.co.in
Request Access
This DAC controls 5 datasets
Dataset ID
Description
Technology
Samples
EGAD00001008621
The dataset consists of whole exome sequencing data (fastq format) of 100 non-syndromic autism spectrum disorder patients from India. Whole exome sequencing data is generated using Agilent SureSelect v6 capture kit and Illumina HiSeq sequencing platform. Paired end fastq files are available.
Illumina HiSeq 2500
100
EGAD00001015593
The dataset consists of a single sample whereby the genomic DNA was analysed using PacBio WGS at 30x coverage to assess the breakpoint sites of complex chromosomal rearrangements.
PacBio RS II
1
EGAD00001015606
The dataset consists of whole exome and genome sequencing data from infertile males and his parent(s) and/or sibling(s)
Illumina NovaSeq 6000
Illumina NovaSeq X Plus
131
EGAD00010002342
Diagnostic yield of affymetrix optima microarray in patients with non-syndromic autism spectrum disorders in India.
Affymetrix CytoScan Optima
99
EGAD50000001231
This study involved performing long read whole genome sequencing using Oxford Nanopore Technology platform on to detect causative structural variants in patients with non-syndromic autism spectrum disorder. This study was performed on 23 such children in whom prior karyotyping, Fragile-X analysis (in males), chromosomal microarray and whole exome sequencing did not identify a causative variant.
MinION
23