DNA sequencing

Entire Genomes Can Now Be Assembled Quickly on a Personal Computer

An innovative bioinformatics approach developed at MIT and the Institute Pasteur allows genomes to be assembled within minutes on a standard desktop computer, a process that normally takes many hours and uses high amounts of computing power.
Woman holding her stomach and looking ill, with intestines highlighted.

Human Cell Atlas Uncovers Possible Drug Targets for Crohn’s and Other Gut Diseases

Two publications in Nature report on advances from the Human Cell Atlas (HCA) consortium, creating the most comprehensive Cell Atlas of the gut to date, identifying new targets for gut diseases, and laying out a framework for expansion of the project to other parts of the anatomy.
Smiling female doctor cheer small boy patient

CureDuchenne Builds Data-Sharing Platform to Accelerate Drug Development

CureDuchenne Link is powered by technology from BC Platforms, a global leader in healthcare data management, analytics, and access. The data warehouse uses BC|INSIGHT, a HIPAA-compliant translational research platform, which allows for automated ingestion and harmonization of clinical information and multiple data types including genomics and other omics data.

Avera Health Taps Sema4 for Advanced Precision Oncology Program

Managed through the Avera Cancer Institute, the deal with Sema4 will leverage the company’s Centrellis health information platform to curate, structure and integrate clinical and genomic data to support both cancer research and clinical care.
Point mutation, illustration

Machine Learning Tool Maps Cancer Causing Mutations

Spanish researchers have developed a tool, based on machine learning methods, that assesses the possible contribution of all variants in a gene in a given type of tumor to the development and progression of cancer.
Picture of protein structure used to illustrate AlphaFold database release

DeepMind and EMBL Release Extensive, Open Database of Predicted Protein Structures

In a boost for AI-aided biology, the AlphaFold Protein Structure Database, covering around 20,000 human proteins, was launched today by AI-specialists DeepMind in collaboration with the EMBL and is openly available to the scientific community.
Abstract AI and DNA image with silhouette of a head and shoulders.

Sophia Genetics to Collaborate with GE Healthcare to Advance Precision Cancer Care

Swiss big data firm Sophia Genetics partners with U.S. medtech giant GE Healthcare to use AI and big-data analytics to advance precision oncology.
Ali Sarrami-Foroushani and Michael MacRaild, two coauthors on the Nature Communications paper with Alejandro Frangi, based at the University of Leeds.

Replace, Reduce, Refine: In-Silico Trials in The Spotlight

Recent regulatory changes and the global pandemic have highlighted the need for exploring 'in-silico' trials, carried out on virtual populations, as a way to speed up and reduce costs of drug and medical device development, while still maintaining accuracy.

Method Developed to Increase Equity in Genomic Databases

Known as Summix, the method adjusts information to match the ancestry of a person or sample of people with the goal of making large genetic databases more useful for people of traditionally underrepresented ancestries.
Centogene’s CentoMD® rare disease variant database will be integrated into Qiagen’s bioinformatics suite in a rare disease bioinformatics collaboration by the companies. [Source: alengo/Getty]

Multiomics Data Analysis Identifies Cancers’ Genetic Vulnerabilities

Gene dependency relationships, including synthetic lethality, may produce cancer ‘Achilles heels’; a Belfast-based team has designed a program to look for these vulnerabilities which was very effective at finding them in a range of different cancer cells and tissues.