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