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SRX21640647: Whole exome sequencing of human sample 23
1 ILLUMINA (HiSeq X Ten) run: 57.8M spots, 17.4G bases, 6.6Gb downloads

Design: DAN was extracted and it was subjected for whole exome sequencing
Submitted by: Aravind medical research foundation
Study: To EXPLORING MITONUCLEAR GENETIC FACTORS IN LEBER'S HEREDITARY OPTIC NEUROPATHY: INSIGHTS FROM COMPREHENSIVE PROFILING OF UNIQUE CASES
PRJNA1013221 • SRP458705 • All experiments • All runs
show Abstracthide Abstract
This study investigate the genetic basis of thirty distinct LHON cases through comprehensive sequencing to identify mito-nuclear genetic factors involved in the disease pathogenesis. Our findings highlight the significance of nuclear gene involvement in cases of LHON exhibiting secondary mutations or inconclusive mtDNA mutations
Sample:
SAMN37294636 • SRS18810492 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: 356985_sample14
Instrument: HiSeq X Ten
Strategy: WXS
Source: GENOMIC
Selection: PCR
Layout: PAIRED
Runs: 1 run, 57.8M spots, 17.4G bases, 6.6Gb
Run# of Spots# of BasesSizePublished
SRR2592094657,755,29717.4G6.6Gb2023-09-06

ID:
29291254

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