Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern.

Powis, Zöe

Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern. [electronic resource] - Journal of human genetics Feb 2016 - 173-5 p. digital

Publication Type: Journal Article

1435-232X

10.1038/jhg.2015.125 doi


Consanguinity
Exome
Female
Genes, Recessive
Genetic Diseases, Inborn--diagnosis
Humans
Inheritance Patterns
Male
Molecular Diagnostic Techniques
Mutation
Sequence Analysis, DNA