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FRIGE IHG Data Access Committee

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Harsh Sheth
harsh.sheth@frige.co.in

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This DAC controls 6 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
EGAD50000002088	The dataset consists of germline whole exome sequencing data generated on the Illumina NovaSeq X Plus platform for 48 patients with MSI-high/ MMRd gastro-intestinal and genito-urinary cancers, in order to detect Lynch syndrome.	Illumina NovaSeq X Plus	48