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Exome as 'Key Step'

Dr. Rick at the DNA Dude blog discusses Jay Shendure and Debbie Nickerson’s paper in this month’s Nature Genetics on identifying the gene for a rare Mendelian disorder called Miller syndrome using exome sequencing. Dr. Rick says that whole genome sequencing is “over-kill” and “provides little useful information in the way of medical genetics.” He adds that “the exome filtering technique provides an exciting model for future studies of rare Mendelian disorders. It’s likely a key step in the long development of personalized medicine.”

The Scan

New Study Highlights Role of Genetics in ADHD

Researchers report in Nature Genetics on differences in genetic architecture between ADHD affecting children versus ADHD that persists into adulthood or is diagnosed in adults.

Study Highlights Pitfall of Large Gene Panels in Clinical Genomic Analysis

An analysis in Genetics in Medicine finds that as gene panels get larger, there is an increased chance of uncovering benign candidate variants.

Single-Cell Atlas of Drosophila Embryogenesis

A new paper in Science presents a single-cell atlas of fruit fly embryonic development over time.

Phage Cocktail Holds Promise for IBD

Researchers uncovered a combination phage therapy that targets Klebsiella pneumonia strains among individuals experiencing inflammatory bowel disease flare ups, as they report in Cell.