Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. [electronic resource]
- Nature biotechnology 05 2016
- 531-8 p. digital
Publication Type: Journal Article
1546-1696
10.1038/nbt.3514 doi
Child Child, Preschool Chromosome Mapping--methods DNA Mutational Analysis--methods Disease Resistance--genetics Female Genetic Diseases, Inborn--diagnosis Genetic Predisposition to Disease--genetics Genetic Testing--methods Genome, Human--genetics Humans Infant Infant, Newborn Male Mendelian Randomization Analysis--methods Polymorphism, Single Nucleotide--genetics Reproducibility of Results Sensitivity and Specificity