Exome Study of Consanguineous Families With New Dysmorphology Syndromes Yields Plausible Dx for Most | GenomeWeb

NEW YORK (GenomeWeb) – Analyzing the genomes of consanguineous families with apparently novel dysmorphology syndromes, researchers from Saudi Arabia have found a plausible molecular diagnosis for 90 percent, mostly in novel candidate genes.

Reporting detailed clinical and genomic analyses likes these through exchange databases, they said, will likely help researchers and doctors discover and confirm novel disease syndromes more quickly.    

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 Nature this week: modern European bison analysis, phased diploid genome assembly algorithms, and more.

Actress Jennifer Lopez is working with NBC on a CRISPR-inspired television show, according to the Hollywood Reporter.

Researchers trace the origin of one human papillomavirus lineage to Neanderthals or Denisovans, Vox reports.

The BabySeq project faces lower-than-expected enrollment rates, according to ScienceInsider.

Sponsored by
Agilent Technologies

In this online seminar, speakers from the Center for Personalized Diagnostics at Penn Medicine will discuss the design and technical validation of a custom next-generation sequencing panel to detect mutations in a wide array of tumor types.