Genotype-Phenotype Study Defines Disease-Causing Versions of Cystic Fibrosis Gene | GenomeWeb

NEW YORK (GenomeWeb News) – With the help of genotypic and phenotypic data for tens of thousands of individuals with cystic fibrosis, a Johns Hopkins University-led team has hammered out a list of more than 125 variants that can contribute to the disease.

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.