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Accession: PRJNA285944 ID: 285944

Homo sapiens (human)

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

See Genome Information for Homo sapiens
We used targeted NGS to detect disease-causing mutations for the clinical diagnosis of 561 Mendelian diseases.
AccessionPRJNA285944
Data TypeRaw sequence reads
ScopeMonoisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsLiu Y et al., "Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.", PLoS One, 2015;10(8):e0133636
SubmissionRegistration date: 5-Jun-2015
BGI
RelevanceMedical
Project Data:
Resource NameNumber
of Links
Publications
PubMed1
PMC1
Other datasets
BioSample94
No public data is linked to this project. Any recently released data that cites this project will be linked to it within a few days.

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