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SRX13085209: Targeted Sequencing for albinism in association with intellectual disability
1 ILLUMINA (Illumina MiSeq) run: 21.9M spots, 6.6G bases, 2.6Gb downloads

Design: Paired end sequencing is performed on mean >80-100X coverage. The sequence obtained is aligned to Human reference genome (hg19) using BWA program. Picard and GATK version 3.6 was used to identify variants relevant to clinical indication.
Submitted by: ICMR-National Institute of Immunohaematology (ClinVar-Department of Cytogenetics)
Study: Homo sapiens Phenotype or Genotype
show Abstracthide Abstract
To study the genotype-phenotype correlation in cases of albinism associated with Intellectual Disability. RP1 gene variant found in our project, p.Gln1546Ter. This has been deposited by authors in ClinVar under accession number VCV001315572.1. The detailed sanger validated sequences are deposited in GeneBank under the following accession ID. BankIt2515543 AI1_F OL351360 BankIt2515543 AII1_F OL351361 BankIt2515543 AII2_F OL351362 BankIt2515543 AIII1_F OL351363 BankIt2515543 AIII2_F OL351364 BankIt2515543 AIII3_F OL351365 The TYR gene Exon 3 deletion was identified through NGS and further being confirmed by MLPA, the variant details are deposited in ClinVar under accession number VCV000992661.1
Sample: Albinism sample from Homo sapiens
SAMN22696442 • SRS11022068 • All experiments • All runs
Organism: Homo sapiens
Library:
Name: CYTO/SRA/2021/001
Instrument: Illumina MiSeq
Strategy: Targeted-Capture
Source: GENOMIC
Selection: PCR
Layout: PAIRED
Runs: 1 run, 21.9M spots, 6.6G bases, 2.6Gb
Run# of Spots# of BasesSizePublished
SRR1689248821,933,5606.6G2.6Gb2021-11-15

ID:
17793815

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