Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

A. Vetro, D. Goidin, I. Lesende, I. Limongelli, G.N. Ranzani, F. Novara, M.C. Bonaglia, B. Rinaldi, F. Franchi, E. Manolakos, F. Lonardo, F. Scarano, G. Scarano, L. Costantino, S. Tedeschi, S. Giglio, O. Zuffardi

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)545-556
Number of pages12
JournalClinical Genetics
Volume93
Issue number3
DOIs
Publication statusPublished - 2018

Keywords

  • copy number variations
  • exome sequencing
  • genetic diagnosis
  • isodisomy
  • loss of heterozygosity
  • adult
  • angioma
  • appetite disorder
  • arthrogryposis
  • Article
  • Bartter syndrome
  • bioinformatics
  • case report
  • cerebellum hypoplasia
  • cerebellum vermis
  • child
  • chromosome 14q
  • chromosome 1q
  • chromosome 2
  • chromosome 8p
  • chromosome analysis
  • chromosome deletion
  • chromosome mosaicism
  • chromosome rearrangement
  • chromosome translocation
  • CLCNKB gene
  • clinical article
  • comparative genomic hybridization
  • copy number variation
  • corpus callosum agenesis
  • CRB1 gene
  • cryptorchism
  • cytogenetics
  • female
  • fluorescence in situ hybridization
  • gene
  • gene amplification
  • gene deletion
  • gene duplication
  • gene sequence
  • genetic variation
  • growth retardation
  • heart atrium septum defect
  • heterozygosity
  • heterozygosity loss
  • homozygosity
  • human
  • infant
  • karyotyping
  • kidney malformation
  • language delay
  • male
  • missense mutation
  • multiplex ligation dependent probe amplification
  • muscle hypotonia
  • nephrolithiasis
  • newborn
  • next generation sequencing
  • patent foramen ovale
  • polyuria
  • preschool child
  • priority journal
  • psychomotor disorder
  • retinitis pigmentosa
  • Roberts syndrome
  • salt wasting
  • Sanger sequencing
  • school child
  • sex transformation
  • short stature
  • supravalvular aortic stenosis
  • trisomy
  • uniparental disomy
  • vomiting
  • WFS1 gene
  • Williams Beuren syndrome
  • young adult

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