Today I will validate ~2000 #CNV visually. Plots are formatted in #SVG. I wrote a small web server where I just have to type (P)ass (F)ail (A)mbigous #CopyNumberVariation #genomics .
Let's go. #motivation #motivation #motivation
Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.
Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Autism News International
Pierre Lindenbaum
