Researchers found 253 candidate disease genes, based on 10,927 exomes from patients with autism spectrum disorder, developmental delay, or intellectual disability.
Using DNA sequence, gene expression, methylation, and drug response data, researchers saw alterations linked to ovarian cancer subtypes and drug responses.
Researchers explored the role of de novo variants and copy number alterations in the disease using new and existing exome sequences for children with Tourette disorder and their parents.
Using a new machine-learning approach, researchers from the Sanford Burnham Prebys Medical Discovery Institute analyzed brain cells obtained from mice during neurogenesis.
The company will use the funds to develop and refine proprietary algorithms for identifying more complex variants including translocations and inversions.
An analysis on thousands of Japanese individuals with autism spectrum disorder or schizophrenia uncovered shared pathways and an abundance of rare exonic copy number variants.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
In Genome Biology this week: gut microbiome study of individuals from Tanzania and Botswana, sixth version of the Network of Cancer Genes database, and more.
