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Identification of genetic defects in families segregating rare genetic disorders using next generation genomic tools

ABSTRACT: To delineate novel genetic loci linked with rare genetic disorders in families segregating hereditary genetic disorders of using whole genome SNP genotyping followed by discovery of novel gene using whole exome sequencing. Use of identified variants to establish genotype-phenotype correlation

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo Sapiens

SUBMITTER: Center for Genetics and Inherited Diseases, Taibah University

PROVIDER: PRJEB48950 | EVA | 2021-11-27

REPOSITORIES: EVA

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			Action	DRS
	RGD19-1_EPL20-VBZO.final.vcf.gz	Vcf
	RGD19-1_EPL20-VBZO.final.vcf.gz.csi	Vcf
	RGD19-1_EPL20-VBZO.final.vcf.gz.tbi	Vcf

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