Princeton University researchers have used AI techniques to uncover junk DNA mutations which can lead to autism. The findings are the first to link functionally link mutations in regulatory DNA with a disease like autism, and possibly prove that the changes affect how genes are expressed in the brain.
Advancements in sequencing technology and per sample cost reductions are driving rapid adoption of NGS by labs all over the world. Complementary software solutions are a critical enabler for raw data processing and biological discovery, and new cloud-based platforms provide scalability and ease of use. In this webinar, learn how IBM Aspera and BlueBee offer […]
Researchers at the Fred Hutchinson Cancer Research Center have proposed gold nanoparticles as a new way to deliver CRISPR Cas-12a to cells. These nanoparticles can be filled with the necessary CRISPR components to edit genes cleanly, with between 10% and 20% of targeted cells successfully edited during lab studies. No toxic side effects were found from the process.
It has now been 16 years since the Human Genome Project sequenced the first ever human genome: in that time, as has been mentioned in previous editions of this report, more than 500,000 genomes have been sequenced, generating enough data to drastically raise computational resource usage and create a need for rapid innovation to offset […]
A drug developed in part by Indiana University School of Medicine to alleviate the symptoms of X-linked hypophosphatemia (XLH), a disease which softens bones, has proven significantly more effective than conventional therapies.
UK Biobank has released a vast tranche of genetic data to health researchers around the world, offering an unprecedented resource to enhance understanding of human biology and aid in therapeutic discovery. This follows a brief exclusive research period for Regeneron and GSK. Additional tranches of data will be released over the next two years.
Dr Ben Langmead is a computational biologist and assistant professor in the Computer Science Department at Johns Hopkins University, most famous for his creation of the Bowtie and Bowtie 2 sequence alignment algorithms, used to improve sequencing alignment quality. FLG spoke to Dr Langmead about his lab, his recent work using the Stampede2 supercomputer cluster to optimise sequencing data analysis software, and the future for DNA sequencers as a whole.
Questions around legality, protecting privacy and ensuring quality of data in DNA sequencing all need answering, a symposium recently held at the University of Minnesota has announced. LawSeq, a $2 million project looking to solve the issue of privacy and legality in sequencing, is exploring how to ensure the legal world catches up with current science.
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.
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.
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.
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.