Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations

Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations

Hamartomatous polyposis syndromes (HPS) are rare cancer-predisposing disorders including Juvenile polyposis (JPS), Peutz–Jeghers (PJS) and PTEN hamartomatous syndromes (PHS). Penetrant mutations in corresponding genes (SMAD4, BMPR1A, STK11, PTEN and AKT1), are usually diagnosed via a next-generation...

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Bibliographic Details
Main Authors: Revital Kariv, Dvir Dahary, Yuval Yaron, Yael Petel-Galil, Mira Malcov, Guy Rosner
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Genes
Subjects:
hamartomatous polyposis
whole-genome sequencing
structural genomic
inversion
deletion
Online Access:https://www.mdpi.com/2073-4425/13/8/1408

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