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Genome Information for Homo sapiens
This study of 59 primary ciliary dyskinesia (PCD) patients utilized whole-exome capture sequencing to help identify variants that may be causative for PCD. Our goal was to provide insights into disease pathophysiology in samples, most of which had no obvious phenotype from transmission electron microscopy. This class of patients has been understudied. The patient samples were collected through UNC or under the auspices of Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), which consists of eight geographically diverse clinical research sites across North America. It collectively studies inherited respiratory diseases related to impaired mucociliary clearance and airway host defense, which result in chronic suppurative respiratory diseases. The goal is to enhance diagnostic... (for more see dbGaP study page.)
| Accession | PRJNA635175; dbGaP: phs002035 |
| Type | Umbrella project (Subtype:Authorized Access) |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 26-May-2020
NHLBI |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 59 |
| Other datasets |
| BioSample | 59 |
| Genotype and Phenotype (dbGaP) | 1 |
Primary ciliary dyskinesia without obvious electron microscopy defects encompasses the following sub-project:
| Project Type | Number of Projects |
| Phenotype or Genotype | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA635176 | Homo sapiens | Primary ciliary dyskinesia without obvious electron microscopy defects (WASHINGTON UNIVERSITY) |
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