Watson, Christopher M

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. [electronic resource] - Human mutation Apr 2014 - 434-41 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.22490 doi


Axonemal Dyneins--genetics
Codon, Nonsense
Dyneins--genetics
Genes, Neoplasm
Genetic Predisposition to Disease
Genetic Testing--methods
Genetic Variation
High-Throughput Nucleotide Sequencing
Humans
Kartagener Syndrome--diagnosis
Neoplasms--diagnosis
Polymorphism, Single Nucleotide
Reproducibility of Results
Software
User-Computer Interface