ID
45343
Description
Principal Investigator: Jay Shendure, PhD, University of Washington, Seattle, WA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000500 The overall purpose of this study was to demonstrate the feasibility of producing haplotype-phased whole genome sequence data from a fetus using free fetal DNA isolated from maternal plasma collected during the first half of gestation.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000500
Keywords
Versions (2)
- 11/2/22 11/2/22 - Tabea Kampen
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Jay Shendure, PhD, University of Washington, Seattle, WA, USA
Uploaded on
November 2, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000500 Non-Invasive Whole Genome Sequencing of a Human Fetus
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject ID aliases, and affection status.
- The pedigree data table contains pedigree and gender information of study participants. There are 2 family trios.
- The subject sample data table contains mapping of study 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 a mapping of sample IDs to other sample ID aliases and sample use.
- The sample attributes data table includes body site where sample was extracted, sample analyte type and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs, consent group information, subject ID aliases, and affection status.
- The pedigree data table contains pedigree and gender information of study participants. There are 2 family trios.
- The subject sample data table contains mapping of study 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 a mapping of sample IDs to other sample ID aliases and sample use.
- The sample attributes data table includes body site where sample was extracted, sample analyte type and tumor status.
C1320396 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
C0086582 (UMLS CUI [1,4])
C0444245 (UMLS CUI [2,1])
C0015671 (UMLS CUI [2,2])
C0026591 (UMLS CUI [2,3])
C0008059 (UMLS CUI [3,1])
C0443281 (UMLS CUI [3,2])
C0444245 (UMLS CUI [3,3])