hereditary disease

The company recently switched its diseases gene panels to an exome-based platform and is preparing to open a CLIA laboratory in California.

At the Precision Medicine World Conference this week, researchers discussed how they plan to return genomic results to participants of research-focused sequencing studies.

In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.

Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.

The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.

Mars Petcare's genetic testing unit and Genoscoper had been collaborating since 2015 to discover new genetic health markers for companion animals.

Investigators came up with a 182-variant risk score for early-onset coronary artery disease, which they tested on SNP data from UK Biobank participants with or without the condition.

MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.

A growing number of companies are offering canine DNA tests for breed identification, genetic disease mutations, and traits.

Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.

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A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.