See
Genome Information for Homo sapiens
In this study, sequencing data (WES, WGS, linked-read WGS) was used to identify candidate causal germline variants in a family with inherited cholangiocarcinoma. Candidate causal SNVs and indels were identified from the germline WES data of eight siblings (four affected, four unaffected), then somatic second hits were identified from matched tumor/normal pairs. Second hits were verified using haplotype information derived from linked-read WGS of the tumor data.
| Accession | PRJNA470795; dbGaP: phs001593 |
| 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: 10-May-2018
NHGRI |
| Relevance | Medical |
Genome Sequencing of Familial Cholangiocarcinoma encompasses the following sub-project:
| Project Type | Number of Projects |
| Phenotype or Genotype | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA767030 | Homo sapiens | Genome Sequencing of Familial Cholangiocarcinoma (STANFORD UNIVERSITY) |
|