Long-read genome sequencing identifies causal structural variation in a Mendelian disease.

Merker, Jason D

Long-read genome sequencing identifies causal structural variation in a Mendelian disease. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics Jan 2018 - 159-163 p. digital

Publication Type: Case Reports; Journal Article

1530-0366

10.1038/gim.2017.86 doi


Child
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit--genetics
Echocardiography
Genetic Association Studies
Genetic Diseases, Inborn--diagnosis
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Genomics--methods
Humans
Male
Phenotype
Sequence Analysis, DNA--methods
Sequence Deletion