This population-based study investigated the association of copy number variance and cognitive phenotypes and educational attainment and intellectual disability among individuals whose genetic samples are recorded in the Estonian Genome Center, the University of Tartu, 5% of the population, with the general Estonian population.
This Editorial discusses possible contributions of genomic sequencing to progress in clinical care, from molecular diagnosis to improved outcomes.
Kris and coauthors determine the frequency of oncogenic drivers in patients with lung adenocarcinomas and use the data to select treatments targeting the identified driver(s) and measure survival among 1007 US patients with metastatic lung adenocarcinomas.
Dewey and colleagues found that depending on the sequencing platform used, there was incomplete coverage of inherited disease genes, low reproducibility of potentially clinically significant genetic variation, and uncertainty about clinically reportable findings.
To investigate genetic risk variants for infantile hypertrophic pyloric stenosis, Feenstra and coauthors searched the genome for genetic associations and then validated findings in 3 independent case-control sample sets that included a total of 2664 cases and 4686 controls.