Article
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PloS one - 1 Jan 2015
Polla Daniel L, Cardoso Maria T O, Silva Mayara C B, Cardoso Isabela C C, Medina Cristina T N, Araujo Rosenelle, Fernandes Camila C, Reis Alessandra M M, de Andrade Rosangela V, Pereira Rinaldo W, Pogue Robert
Abstract excerpt
Genetic disorders of the skeleton comprise a large group of more than 450 clinically distinct and genetically heterogeneous diseases associated with mutations in more than 300 genes. Achieving a definitive diagnosis is complicated due to the genetic heterogeneity of these disorders, their individual rarity and their diverse radiographic presentations. We used targeted exome sequencing and designed a 1.4 Mb panel...
Topics
- Bone Diseases, Developmental
- Cohort Studies
- DNA Mutational Analysis
- Exome
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Molecular Diagnostic Techniques
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA