Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Bruel, Ange-Line

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. [electronic resource] - European journal of human genetics : EJHG 10 2019 - 1519-1531 p. digital

Publication Type: Journal Article

1476-5438

10.1038/s41431-019-0442-1 doi


Adolescent
Child
Child, Preschool
Computational Biology--methods
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genomics--methods
Humans
Male
Molecular Diagnostic Techniques
Polymorphism, Single Nucleotide
Research
Sequence Analysis, DNA
Exome Sequencing--methods