NEW YORK (GenomeWeb) – A team of researchers has uncovered mutations in the gene KDSR that appear to contribute to a severe skin condition.

Ichthyoses are a group of severe skin conditions that affect about one in 200,000 people and are marked by dry, scaly, or thickened skin, and KDSR mutations appeared to prevent the skin from sealing in moisture.

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A new study in JAMA finds that genetic tests might not be able to determine what diet is right for someone seeking to lose weight.

A genome-wide association study that linked common genetic variants to salivary gland carcinoma risk has been retracted, according to Retraction Watch.

Vampire bats' ability to live off blood is etched in their genomes and gut microbiomes, the Scientist reports.

In Genome Biology this week: peopling of the Sahara, epigenetic reprogramming analysis of liverwort, and more.

Feb
22
Sponsored by
SeraCare

This webinar will walk through key considerations and helpful guidelines to accelerate next-generation sequencing (NGS)-based clinical genomics assay validation for less money and greater confidence in results.

Feb
27
Sponsored by
Congenica

In this webinar, Jill Viles, an Iowa mother with no clinical training, shares her story of how she self-diagnosed her rare condition, a muscle-wasting disease caused by a mutation in the LMNA gene. She will also discuss how she discovered that a mutation in the same gene is the underlying cause for the excess muscle phenotype exhibited by Canadian Olympic hurdler Priscilla Lopes-Schliep. 

Mar
08
Sponsored by
Swift Biosciences

This webinar will discuss an optimized protocol for methyl-CpG binding domain sequencing (MBD-seq), which enables comprehensive, adequately powered, and cost-effective large-scale methylome-wide association studies (MWAS) of almost all 28 million CpG sites in the genome.

Mar
13
Sponsored by
Agilent

This webinar will share how clinical genetics labs can integrate cytogenetics and molecular data to assess abnormalities using a single sample on a single workflow platform.