Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis

A subset of neurofibromatosis type 1 patients develop tibial dysplasia, which can lead to pseudarthrosis. The tissue from the tibial pseudarthrosis region commonly has a somatic second hit in NF1: single-nucleotide variants, small deletions, or loss of heterozygosity (LOH). We used exome next-genera...

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Détails bibliographiques
Publié dans:J Mol Diagn
Auteurs principaux: Margraf, Rebecca L., VanSant-Webb, Chad, Sant, David, Carey, John, Hanson, Heather, D'Astous, Jacques, Viskochil, Dave, Stevenson, David A., Mao, Rong
Format: Artigo
Langue:Inglês
Publié: American Society for Investigative Pathology 2017
Sujets:
Regular Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5417040/
https://ncbi.nlm.nih.gov/pubmed/28433079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2017.01.008
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