Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Chen, Rong

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