A new polygenic risk score tested data from 300,000 people to forecast risk of obesity. The study found that 10% of adults with the highest genetic risk were 25 times more likely to become severely obese than the 10% whose genes were most likely to keep them slim.
Genetic research is a big data problem without researchers generally having access to this “big” genomic and medical data. Not only has it been nearly impossible to access enough relevant data to support research, but analysing the data has been slow and challenging due to its sheer volume. To counter this, in recent years a number of pharmaceutical companies have announced large-scale collaborations around genomic data to uncover novel drug targets, validate existing drug pipelines, predict response, and expand therapeutics use. We discuss some of the biggest and most recent.
Front Line Genomics’ “Biodata Analysis and Management – Genome Analytics, Interoperability, and Data Life Cycle” report isn’t just an update of our old Genomic Data 101 guides: packed with new information on AI and machine learning,. data discoverability and data interoperability, it is much much more.
Genomic compression expert PetaGene has become a NetApp Alliance Partner, the company announced recently, a move set to improve performance and reduce costs for researchers using large datasets within the genomics field.
Two companies with access to data from the 100,000 Genomes Project have identified patients with previously undiscovered life-threatening kidney and neurological diseases. The companies, Alexion and BioMarin, were part of Genomic England’s Discovery Forum, which grants certain industry research proposals access to data from the project after vetting.
SOPHiA GENETICS’ Solid Tumor Solution (STS) application was recently granted a CE-IVD designation, a regulatory stamp that a product has satisfied the EU’s in vitro diagnostic device requirements. We spoke to Gioia Althoff, SOPHiA’s Senior Vice President, Genomics Business Area, about the STS application and where SOPHiA is going from here.
Initial Study on Plasma Samples and Liquid Biopsy Potential Completed by Genomics England, Inivata and Thermo Fisher Scientific
The first stage of a collaboration between Genomics England, Inivata and Thermo Fisher Scientific looking to assess the suitability of circulating tumour DNA (ctDNA) samples collected during the 100,000 Genomes Project has now concluded. The collaboration was also created to objectively evaluate liquid biopsy market offerings and find evidence for implementing that technology in healthcare for better disease treatment and prevention.
Cambridge and London researchers have created a database of DNA mutation “fingerprints” which can be used to determine the environmental factors contributing to a patient’s tumour. The study, published in Cell journal, can determine 41 different environmental agents linked to cancer, including the traces left in lung tumours by chemicals linked particularly to tobacco smoke.
Compression software company Petagene has announced the addition of “Petagene Protect” to its suite of genomic data projects, giving users the ability to encrypt and manage access to genomic data, as well as ensuring compliance with all relevant regulations.
SOPHiA GENETICS’ Solid Tumor Solution molecular diagnostic application has received CE-IVD designation. The application detects and characterises all types of genomic alteration in 42 clinically-relevant genes related to solid tumours across a number of cancer types.
The rules that cells use to determine which genes they must activate and under what conditions have been further uncovered by scientists at New York University. The findings develop the understanding around how gene variants affect phenotypic traits.
A team from the Wellcome Trust Sanger Institute and Broad Institute have used CRISPR-Cas9 to identify key genes required for cancer survival. Over 18,000 genes from 30 different cancer types were screened, a computational framework then developed to prioritise the 600 most promising drug development targets.
Scientists at the University of California San Diego have created a new version of a gene drive which could lead to spreading specific, favourably genetic variants through a population. This “allelic drive” uses a guide RNA to direct CRISPR to cut undesired gene variants and replace them with better versions of the gene.
An international team of scientists has developed a new gene editing tool which goes beyond the usual mechanisms of CRISPR, acting instead as a “shredder” which can delete large stretches of DNA with programmable targeting. The technology was also shown to work in human cells for the first time.
Certain changes in immune cells within cancerous tumours which reflect how tumours behave in common cancers could see better treatments created in the future. The study, conducted by researchers from the University of Edinburgh, also discovered a set of genes expressed at high levels in breast cancer tumours, and often linked to more aggressive types of cancer.