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Accession: PRJNA43433 ID: 43433

Homo sapiens strain:CMT-001 (human)

Human WGS sequence approach to investigate individual disease

See Genome Information for Homo sapiens
Individual with diagnosed Charcot-Marie-Tooth disease. First example of a whole genome sequence used to solve the molecular basis for an individual's genetic disease.
AccessionPRJNA43433
Data TypeGenome sequencing
ScopeMonoisolate
OrganismHomo sapiens[Taxonomy ID: 9606]
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
PublicationsLupski JR et al., "Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.", N Engl J Med, 2010 Apr 1;362(13):1181-91
SubmissionRegistration date: 19-Jan-2010
Locus Tag PrefixCWK
Project Data:
Resource NameNumber
of Links
Sequence data
SRA Experiments3
Publications
PubMed1
PMC1
Other datasets
BioSample1
SRA Data Details
ParameterValue
Data volume, Gbases152
Data volume, Tbytes0.13

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