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HRA005380
   HRA005380.xlsx
Title:
Haplotype analysis in Preimplantation Genetic Testing for Special Monogenic Diseases Cases based on Nanopore Sequencing
Release date:
2023-08-29
Description:
Conventional PGT-M, based on next-generation sequencing (NGS), has limitations to analyze haplotype linkage when dealing with special pathogenic variants, particularly under conditions of de novo variant or incomplete pedigree information. We recruited four couples who underwent PGT-M cycles in our center. They are patients or carriers of alpha-thalassemia, beta-thalassemia, polycystic kidney disease-1, and spinocerebellar ataxia-1, respectively, with different variants (missense variants, insertions and deletions (InDels), large fragment deletions, and short tandem repeats (STRs)).We wanted to explore whether nanopore sequencing could be applied for haplotype analysis .
Data Accessibility:   
Controlled access Request Data
BioProject:
PRJCA018616
Study type:
Method research
Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.


DAC NO.:
HDAC002898
DAC name:
nanopore sequencing
Contact person:
Ren Zi
Email:
renz6@mail.sysu.edu.cn
Description:
Nanopore sequencing used in PGT
Individuals & samples
Files
Request Data
Submitter:   Ren Zi / renz6@mail.sysu.edu.cn
Organization:   The Sixth Affiliated Hospital, Sun Yat-sen University
Submission date:   2023-08-17
Requests:   -