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Genetic Analysis of Patients with Inherited Retinal Dystrophies (IRDs)

ABSTRACT:

Genetic analysis of patients with Inherited Retinal Dystrophies (IRDs) was carried out by performing Whole Genome Sequencing (WGS). The main purpose of this study is to identify simple and complex mutations responsible for IRD in patients.

WGS was performed on selected affected and unaffected individuals using the Illumina HiSeqX10. The reads were aligned to human genome 19 (hg19) and variant calling was performed using Genome Analysis Toolkit (GATK). The genotyping quality of single nucleotide variants (SNVs) and indels was assessed using the variant quality score recalibration approach implemented in GATK. Copy number variations (CNVs) were called using Genome STRiP and SpeedSeq.

This large set of whole genome sequencing data from different ethnicity can be stored and shared through dbGaP. This data could serve as a source for checking frequencies of variants or the pathogenicity of selected variants in different ethnicities.

PROVIDER: phs001619 | dbGaP |

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs001619.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001619.HereditaryRetinalDegenerations.v1.p1.MULTI.pdf	Pdf
	manifest_phs001619.HereditaryRetinalDegenerations.v1.p1.c2.DS-HED-NPU-GSO.pdf	Pdf
	datadict_v2.xsl	Other

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