E-MTAB-1574 - Genotyping by high throughput sequencing of human peripheral blood leucocytes from patients with schwannomatosis to investigate resequencing of chromosome 22

Status
Released on 12 November 2013, last updated on 3 May 2014
Organism
Homo sapiens
Samples (8)
Protocols (5)
Description
Targeted resequencing of chromosome 22 in schwannomatosis individuals
Experiment types
genotyping by high throughput sequencing, genotype, genotyping, in vitro
Contact
Citation
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Nat Genet 46(2):182-187 (2014), Europe PMC 24362817
MINSEQE
Exp. designProtocolsVariablesProcessedSeq. reads
Files
Investigation descriptionE-MTAB-1574.idf.txt
Sample and data relationshipE-MTAB-1574.sdrf.txt
Links