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For the Answer

A trio of recent studies underscores the possibility that clinical genome sequencing holds, particularly for diagnosing neurodevelopmental disorders affecting children, writes Francis Collins, the director of the US National Institutes of Health, in a blog post.

"All of this progress has made genome sequencing a far more realistic clinical option to consider for people, especially children, who suffer from baffling disorders that can't be precisely diagnosed by other medical tests," he adds.

Researchers from Children's Mercy Hospitals and Clinics reported earlier this month in Science Translational Medicine that turning to trio genome or exome sequencing early on the effort to diagnose children with neurodevelopmental disorders could be cost effective. Additionally, in their study of 119 children, they were able to diagnose 45 percent of the kids using sequencing and about half of those who were diagnosed had changes made to how their disease was being managed, as GenomeWeb reported.

Collins also refers to two studies that appeared in the Journal of the American Medical Association that separately found that exome sequencing of patients, mostly children, with diverse symptoms could led to a molecular diagnosis in about a quarter of cases, with one study noting that that rate increased to just shy of a third if parent-offspring trios were sequenced and analyzed.

"Obtaining a molecular diagnosis can be very important: it can end the long odyssey by identifying a definitive cause of the problem, suggest insights on how to treat and manage the child's condition, and provide information to parents on their risks of having another child affected by the disorder," Collins adds.

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.