Genomic Diagnostic Laboratory (GDL) at the Children’s Hospital of Philadelphia (CHOP)
Initiatives
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To provide genetic and genomic diagnostic testing for congenital and/or developmental disorders using genetic material extracted from blood, fibroblast tissue, saliva, products of conception, buccal swabs and other tissues as needed.
*DGDGeneticCounselor@email.chop.edu*
Visit GDL-CHOP
| Investigators | Contacts |
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Design
- Study design
- Patients' cohort
Marker Paper
Rajagopalan R, Murrell JR, Luo M, Conlin LK. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Med. 2020 Jan 30;12(1):14. doi: 10.1186/s13073-020-0712-0.
PUBMED 32000839
Recruitment
- Sources of Recruitment
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- Individuals
Number of participants
- Number of participants
- Number of participants with biosamples
Access
Availability of data and biosamples
| Data | |
| Biosamples | |
| Other |