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SRX21640654: Whole exome sequencing of human sample 30
1 ILLUMINA (NextSeq 550) run: 26.8M spots, 8G bases, 2.5Gb 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
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:
SAMN37294643 • SRS18810496 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: GI_83
Instrument: NextSeq 550
Strategy: WXS
Source: GENOMIC
Selection: PCR
Layout: PAIRED
Runs: 1 run, 26.8M spots, 8G bases, 2.5Gb
Run# of Spots# of BasesSizePublished
SRR2592093926,788,2058G2.5Gb2023-09-06

ID:
29291261

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