Article
Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.
Journal of human genetics - 1 Feb 2016
Powis Zöe, Farwell Kelly D, Alamillo Christina L, Tang Sha
Abstract excerpt
Diagnostic exome sequencing (DES) is an effective tool for diagnosis in intractable cases where the underlying cause is thought be genetic. It is commonly assumed that patients with a family history of consanguinity will have increased detection rates for rare autosomal recessive Mendelian disorders through DES. Herein, we analyzed the diagnostic yield and relevant inheritance patterns within the DES cases with a...
Topics
- Consanguinity
- Exome
- Female
- Genes, Recessive
- Genetic Diseases, Inborn
- Humans
- Inheritance Patterns
- Male
- Molecular Diagnostic Techniques
- Mutation
- Sequence Analysis, DNA