Reports

New ML Program Can Characterise Single Cell RNA-seq

Neural networks and supervised machine learning (ML) techniques can characterise cells studied using single cell RNA-sequencing (scRNA-seq), scientists from Carnegie Mellon University (CMU) have learnt. This could aid others in identifying new cell subtypes and in discerning diseased cells.

CRISPR Repairs DNA Even Without Donor Template

CRISPR-Cas9 can carry out precise genome editing even without the assistance of donor DNA templates, a team of scientists from Brigham and Women’s Hospital and the Broad Institute of MIT and Harvard have found.

New Tech Predicts Biosequence Binding in Seconds

A new technology known as “Pattern to Knowledge” (P2K) has been created by researchers at the University of Waterloo to predict the binding of biosequences in only seconds. The new development could radically speed up discovery of new drugs and reduce the need for expensive laboratory tests.

Mutations in “Guardian of the Genome” Assist Cancer in Spreading

Tumours are helped in their development by mutating the most important cancer-prevention gene, p53, scientists from Melbourne have found. The study, published in Genes and Development, found that mutant p53 prevents the regular p53 protein from activating its natural defences, increasing the risk of the cancer spreading.

Illumina Buys PacBio for $1.2bn

DNA sequencing company Pacific Biosciences (PacBio) is being bought for $1.2bn by bigger rival Illumina, it was announced yesterday. The deal represents a 71% premium on yesterday’s closing price for PacBio, and is the largest that Illumina has ever made.

AMP 2018: The Challenges of Introducing NGS to Clinics Globally

We spoke to Dr. Carlos Prada, Assistant Professor of Clinical Genetics at Cincinnati Children’s Hospital Medical Center within the University of Cincinnati Department of Pediatrics, and Dr. Emma Clement, Consultant in Clinical Genetics at Great Ormond Street Hospital in the UK, to find out how more about the challenges of implementing NGS globally, and where that implementation has been successful.

AMP 2018: An Interview with Dr. Jonathan Rothberg

Dr. Jonathan Rothberg is a man who needs little introduction, and is now receiving the Association of Molecular Pathology’s (AMP) Award for Excellence in Molecular Diagnostics Services. We spoke to him about his many achievements, his proudest moments, and the future of his fascinating field.

AMP 2018: Precision Medicine Starts Here

The Association for Molecular Pathology (AMP) Annual Meeting & Expo is where the molecular diagnostics community gathers to advance clinical knowledge, discuss new discoveries, share recent successes, and showcase the latest technological advances in molecular medicine.

Gene Editing Could Cure Fatal Muscle Disease

The editing of muscle cells in young beagles, bred to Duchenne muscular dystrophy, to remove a key barrier to higher protein production could greatly further the treatment of the disease in humans.

GWAS Coming Of Age

There’s a fantastic editorial over in nature medicine that you should really take a look at, if you’re interested in finding out more about where the future of GWAS might be heading.

Scientists Uncover Why Some Cancers Affect Only Young Women

Cells settling in an organ other than the correct one during embryogenesis are often the cause of rare ovarian and pancreatic cancers which affect only young women, researchers at the University of Geneva (UNIGE) and the University Hospitals of Geneva (HUG) have found.