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October 16, 2019

Finding the needle in the haystack: determining genetic variations associated with complex diseases

Genome-wide association studies (GWAS) have gained traction since the mid 2000s, with over 7,800 GWAS studies performed which have facilitated the detection of over 159,200 unique ‘needles’ – SNP-trait associations, all archived in EMBL-EBI’s GWAS Catalogue.

Bioinformatics/Cloud computing/Product Comments: 0

October 2, 2019

How growing consumer demand for ancestry DNA testing is creating new challenges for DTC testing companies

All humans are 99% genetically identical. Yet the 1% difference hidden within our genomes is enough to inform us about our origins. Ancestry analysis has undeniably become the #1 genetic analysis performed throughout in the world.

Bioinformatics/Consumer Genetics/Product Comments: 0

September 20, 2019

How to achieve standardised secondary genomics analysis with Illumina’s DRAGEN

DRAGEN is now available on Deploit enabling bioinformaticians to perform federated, standardised and cloud-native secondary genomics analysis.

Bioinformatics/Cloud computing/Product

September 13, 2019

How to analyse genomics data without bioinformatics skills using a genome browser

The advent and refinement of visualisation tools has allowed scientists of all programming levels to unearth the valuable insights that lie in these complex file types, which can consist of thousands to billions of data points. One such tool is the Integrative Genomics Viewer (IGV), a high-performance visualisation tool for the interactive exploration of large genomic files.

Bioinformatics/Clinical/Product Comments: 0

September 4, 2019

The ultimate guide on how to offer genetic testing services or boost your current offerings in no time

Unless you have been living under a rock, you should be well aware that consumer genetics are booming and that the number of direct-to-consumer (DTC) offering genetic testing services is exploding.

Bioinformatics/Consumer Genetics/Product Comments: 0

August 29, 2019

Filling in the blanks for direct-to-consumer genetic testing companies: delivering industry’s fastest & most scalable imputation method

The commoditised genotyping array market has generated increased interest with various large direct-to-consumer (DTC) genotyping companies in the market, including 23andme, AncestryDNA, DNAFit and MyHeritage. Contrary to whole genome sequencing, genotyping arrays are cheaper and provide the economy of scale for mass adoption at a consumer level.

Bioinformatics/Industry/Product Comments: 0

August 9, 2019

How to run any nf-core analysis over the Cloud: an example using the nf-core/rnaseq pipeline

In this blog post, we will show you how it is possible to run any of the stable release nf-core pipelines with ease over the Cloud by using the Deploit platform. We have used the RNA-seq pipeline as an example because it is the most popular of all the nf-core pipelines. The following can also be done for any of the nf-core pipelines.

Bioinformatics/Product/Tutorial Comments: 0

August 7, 2019

Standardising cloud-native bioinformatics pipelines: nf-core meets CloudOS

The democratisation of Next Generation Sequencing technologies has made omics data more available than ever before. Bioinformaticians are now confronted with tackling the NGS data deluge in order to deliver actionable insights. Transforming raw data into impactful insights requires bioinformaticians to process omics data with bioinformatics pipelines. To date, however, no validated standards have been widely established by the bioinformatics community.

Bioinformatics/Open Source/Product Comments: 0

July 24, 2019

How to use Illumina’s DRAGEN in CloudOS: ultra-rapid & highly accurate secondary NGS analysis at your fingertips

Learn how to run DRAGEN for ultra-rapid secondary analysis through Deploit over your genomics data, in your own AWS cloud.

Bioinformatics/Cloud computing/Tutorial

May 30, 2019

What is the best imputation pipeline?

Here, we compared three different imputation pipelines in terms of quality of the imputation (as measured by R2), runtime and cost. The pipelines we compared were Beagle5, The Michigan Imputation Server and Impute2.

Bioinformatics/Cloud computing/Engineering/Open Source Comments: 0