U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SRX19561766: WES of Homo sapiens
1 ILLUMINA (Illumina HiSeq 2500) run: 45.9M spots, 13.5G bases, 1.7Gb downloads

Design: Whole-exome capture was performed on the prband using Agilent SureSelect Human All Exon V5 Kit (Agilent Technologies, Santa Clara, CA), according to the manufacturers instruction. The enriched library was then sequenced on the HiSeq 2500 platform (Illumina, San Diego, CA, United States) for paired-end sequencing.
Submitted by: Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital
Study: Whole-exome sequencing identified variants in Chinese patients with Dilated cardiomyopathy type-2D
PRJNA940950 • SRP425622 • All experiments • All runs
show Abstracthide Abstract
Dilated cardiomyopathy type-2D is a rare autosomal recessive heart disease leading to heart failure and sudden cardiac death. The disease is caused by mutations in the RPL3L gene, which encodes the 60S ribosomal protein that is exclusively expressed in skeletal and cardiac muscle and plays an essential role in myoblast growth and fusion. Previous reports have associated CMD2D with only one small duplication and seven nucleotide substitution in the PREPL gene.
Sample:
SAMN33582009 • SRS16946161 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: 23W0904-1
Instrument: Illumina HiSeq 2500
Strategy: WGS
Source: GENOMIC
Selection: size fractionation
Layout: PAIRED
Runs: 1 run, 45.9M spots, 13.5G bases, 1.7Gb
Run# of Spots# of BasesSizePublished
SRR2369991545,887,24913.5G1.7Gb2023-03-04

ID:
26850667

Supplemental Content

Related information

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...