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Showing posts from 2018

Large new atrial fibrillation dataset now in the CVDKP

With today's publication of a new large-scale genetic association study (Roselli et al., Multi-ethnic genome-wide association study for atrial fibrillation, Nature Genetics (2018) doi:10.1038/s41588-018-0133-9), the corresponding dataset has been incorporated into the Cardiovascular Disease Knowledge Portal (CVDKP).

The new dataset, named 2018 AF HRC GWAS in the CVDKP, surveys more than 500,000 individuals, including over 65,000 with atrial fibrillation. With the majority of samples imputed to the Haplotype Reference Consortium (HRC) reference panel, the study analyzed associations for a total of more than 8 million common variants, nearly 3 million low-frequency variants, and almost 1 million rare variants. Individuals in the study represented a wide range of ancestries, including African American, East Asian, Hispanic, and Brazilian in addition to European.

With such a large sample size, the study had the power to detect many new associations. While about 30 loci associated with…

New PR interval genetic associations in the CVDKP

We've added a new dataset to the Cardiovascular Disease Knowledge Portal: PR interval exome chip analysis, with genetic associations from nearly 93,000 individuals. This study was published yesterday in Circulation: Genomics and Precision Medicine (Lin, H., et al., Circ Genom Precis Med. 2018;11:e002037).

The cardiac conduction system is critical to proper heart function, and abnormalities are associated with harmful conditions such as atrial fibrillation. One measure of cardiac conduction is the duration of the PR interval, defined as the time between the onset of the P wave and the onset of the QRS interval in an electrocardiogram. In this study, the authors measured the PR interval, in milliseconds, for 83,367 participants of European ancestry and 9,436 participants of African-American ancestry. They genotyped each participant using the Illumina Human Exome BeadChip, analyzed variant associations with PR interval, and performed meta-analyses.

Common and low-frequency variants (…

Join the Knowledge Portal Network team!

At the Knowledge Portal Network (currently consisting of the Type 2 Diabetes, Cerebrovascular Disease, and Cardiovascular Disease Knowledge Portals), we are looking for energetic, talented people to help us produce web portals that aggregate and serve genetic association results to the world in order to spark insights into complex diseases. There are positions open for a software engineer to help in developing and producing these web portals, and for a technical release manager to manage and coordinate tasks during production and maintenance of the portals.

The positions are located at the Broad Institute in Cambridge, MA, a dynamic and exciting work environment where cutting-edge science is applied to critical biomedical problems.

Find more details and apply for the software engineer or technical release manager positions at the Broad Careers site.