In the news

Rare variants in a newly identified Alzheimer’s disease risk gene, raising the risk of the disease by around two-fold

A reasearch team used a family-based approach to track down low-frequency Alzheimer’s risk variants, sequencing the exomes of individuals from more than a dozen families impacted by late-onset Alzheimer’s disease.

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Whole genome sequencing not yet practical for the clinical setting

"The day may not be as close as researchers have hoped for, that WGS will be able to provide clinicians with ability to cater treatment plans to individual patients at a molecular level."

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Whole exome sequencing and social media aided in the discovery of a new genetic disease

To define the phenotype associated with a novel autosomal recessive disorder, authors studied a series of eight patients with neurological dysfunction, abnormal tear production, and liver disease.

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Resources

Cancer driver gene catalogue

The Candidate Cancer Gene Database, or CCGD, is designed to house cancer-related information found through transposon mutagenesis studies.

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Genomes Unzipped provides genetic testing customers with the knowledge and tools they need to make the most of their own genetic data

To review the products currently on offer from genetic testing companies and to illustrate fundamental concepts in genetics, the collaboration shares the results of the scientific analysis of their own genomes.

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One of the world’s fastest supercomputers devoted to life sciences is able to analyze 240 full genomes in about two days

“With this approach, the price for analyzing an entire genome is less than the cost of the looking at just a fraction of genome, bringing the costs of sequencing down to around $1,000 per genome.”

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