Genomics

Dataset Information

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Identification of a novel deafness gene: functional studies of candidate genes to DFNA58 locus


ABSTRACT: Through CNV analysis of data from exome sequencing, MLPA (multiplex ligation-dependent probe amplification) and RT-qPCR, we revealed the gene responsible for DFNA58 HL: 20 affected family members inherited a duplication including two entire genes, CNRIP1 and PLEK, and exon 1 from PPP3R1. Overexpression of CNRIP1 because of this rare genomic duplication was dectected in all duplication carriers tested but not in noncarriers.

INSTRUMENT(S): Illumina HiSeq 2000

ORGANISM(S): Homo Sapiens

SUBMITTER: Otorhinolaryngology lab/LIM32 - Hospital das Clinicas, Faculdade de Medicina, Universidade de S?o Paulo 

PROVIDER: PRJEB35159 | EVA | 2020-01-06

REPOSITORIES: EVA

Dataset's files

Source:
Action DRS
Karina_varint-opt1.vcf.gz Vcf
Karina_varint-opt1.vcf.gz.tbi Vcf
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