Individual Study / GDL-CHOP

Genomic Diagnostic Laboratory (GDL) at the Children’s Hospital of Philadelphia (CHOP)

Genomic Diagnostic Laboratory (GDL) at the Children’s Hospital of Philadelphia (CHOP)

Initiatives -
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*
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Members

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Investigators Contacts
  • Colleen Campbell
    Children's Hospital of Philadelphia

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
  • Individuals

Number of participants

Number of participants
Number of participants with biosamples

Access

Availability of data and biosamples

Data
Biosamples
Other