U of Wash-Led Team Publishes Miller Syndrome Exome Sequencing Paper | GenomeWeb

NEW YORK (GenomeWeb News) – American researchers who used exome sequencing to find mutations behind a rare single gene disease called Miller syndrome have published the results of the study. The research appeared in the advance, online edition of Nature Genetics yesterday afternoon.

Get the full story

This story is free
for registered users

Registering provides access to this and other free content.

Register now.

Already have an account?
Login Now.

In PLOS this week: parent-of-origin effects, framework to uncover clinically important mutations from whole genome sequence data, and more.

A survey of Cincinnati schoolchildren finds teenagers want to know their genetic predisposition to disease, LiveScience reports.

More and more universities are helping their researchers patent their inventions, the Los Angeles Times reports.

Cancer Research UK unveils seven 'grand challenges' that it will fund researchers to tackle.

Sponsored by

This webinar will discuss the benefits of a rapid targeted next-generation sequencing (TNGS) panel, using dried blood spots, for second-tier newborn metabolic and hearing loss screening and its immediate utility for high-risk diagnostic testing in the neonatal intensive care unit. 

Sponsored by
Oracle Health Sciences

Brian Wells of Penn Medicine will detail how his team's "PennOmics" integrated healthcare data warehouse accelerates clinical trial recruitment at the point of care, accepts data from wearables, and does it all in a secure, HIPAA- and research-compliant fashion.