ID
45962
Description
Principal Investigator: MeSH: Fertilization in Vitro,Mutation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000858 Current methods available for pre-implantation genetic diagnosis (PGD) of *in vitro* fertilized (IVF) embryos do not detect *de novo*. Detection of these types of mutations requires whole genome sequencing (WGS). In this study advanced massively parallel WGS was performed on three 5-10 cell biopsies from two blastocyst-stage embryos. Overall, greater than 95% of each genome was called and experimentally derived haplotypes and barcoded read data were used to detect and phase up to 82% of *de novo* single base mutations with a false positive rate of ~1 error per Gb. These results suggest that phased WGS using barcoded DNA could be used in the future as part of the PGD process to maximize comprehensiveness in detecting disease causing mutations and reduce the incidence of genetic diseases.
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Versions (1)
- 3/20/24 3/20/24 - Madita Rudolph
Copyright Holder
Complete Genomics Inc, Mountain View, CA, USA.
Uploaded on
March 20, 2024
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License
Creative Commons BY 4.0
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dbGaP phs000858 Whole Genome Sequencing and Haplotyping of Blastocyst Biopsies
This subject consent file includes subject IDs and consent group information.
- StudyEvent: SEV1
- This subject consent file includes subject IDs and consent group information.
- This pedigree data table includes subject ID, father and mother IDs, family IDs, and sex.
- This subject sample mapping file contains a mapping of subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This sample attributes data table includes body site where sample was collected, analyte type, tumor status, histological type, and genotyping and sequencing centers.
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This subject consent file includes subject IDs and consent group information.
- StudyEvent: SEV1
- This subject consent file includes subject IDs and consent group information.
- This pedigree data table includes subject ID, father and mother IDs, family IDs, and sex.
- This subject sample mapping file contains a mapping of subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This sample attributes data table includes body site where sample was collected, analyte type, tumor status, histological type, and genotyping and sequencing centers.