Sequencing

The advancement of sequencing technology has had the singe biggest effect on genomics research. As it develops further, so does the scope of genomic research and applications.

102 Genes Linked to Autism Found in Largest-Ever Study

The largest study on autism spectrum disorders (ASD) to date has identified 102 genes involved in the disorder, including 37 new genes that had not been recognised before. Published in Cell, the findings help researchers better understand the causes of the disorder, and could possible help in developing new drug therapies for children with severe impairments.

Non-Cancer Drugs Identified to Kill Cancer Cells

Scientists at the Broad Institute of MIT and Harvard and Dana-Farber Cancer Institute have found that drugs used for inflammation, diabetes, alcoholism, and arthritis also have anti-cancer properties. Published in Nature Cancer, this is the first study to screen an entire collection of mostly non-cancer drugs to see if they can kill cancer cells.

Interview with Dr Alfredo Iacoangeli, Principal Investigator, King’s College London

Dr Alfredo Iacoangeli is a post-doctoral researcher at King’s College London whose aim is the development of a high throughput gene, environment and epigenetics database and analysis system for international ALS research. We managed to have a chat with Alfredo ahead of him speaking at the Festival of Genomics about his work, and why he’s excited to be a part of the festival this year.

New Archaeal Organism Found Gives Insights into Early Complex Life

A new discovery by a Japanese team has identified a type of microorganism called an Asgard archaeon, which could shed light on how early eukaryotic cells evolved. The project took 12 years after finding the cells in deep-sea mud. The findings of the closest Archaeal relative to eukaryotes cultures so far will allow further detailed cellular and metabolic investigation and find out more about the origins of complex life.

Rare DNA Variants Linked to Height Found In Japanese Study

Dozens of rare DNA variants have been identified in the largest genetic study of human height in an Asian population. The genome-wide association study (GWAS) highlighted some of the similarities and differences that play a role in determining height in different parts of the world.

GWAS Finds Six Genetic Variants Linked to Anxiety in Veterans

A genome-wide analysis of nearly 200,000 military veterans has identified six genetic variants linked to anxiety. This is the largest genome-wide association study (GWAS) to date, and has given insights into how people may be pre-disposed to anxiety disorders and provides further explanations for why anxiety and depression often coexist.

Five Times More Genes Than Previously Thought Found to be Linked to Breast Cancer

A collaborative fine-mapping study from researchers across more than 450 departments worldwide has found five times more genetic variants to be associated with breast cancer than previously thought. The most comprehensive map of breast cancer risk variants to date identified 352 DNA errors that are associated with breast cancer with “reasonable confidence”, and target 191 genes, five times more than were previously recognised.

Discovering the Function of Ultra-Conserved “Poison Exons” Through a CRISPR-Based Tool

Scientists at Seattle’s Fred Hutchinson Cancer Research Centre have used a CRISPR-based tool to identify the role of ultra-conserved elements in DNA in blocking the growth of tumour cells and keeping healthy cells growing. Published in Nature Genetics, the research found the importance of these ultra-conserved elements that have remained identical between species, such as humans and mice, over millions of years and showed how essential they are in maintaining a healthy cell.

Sequencing Buyers’ Guide

Get past the hype and bias in sequencing vendor marketing materials, and get an unbiased, highly informed view from a highly qualified professional whose job it is to evaluate sequencing technologies for a world leading healthcare and research institution – the Mayo Clinic. Get a base- to high-level understanding of the sequencing process, to give […]

Illumina and Pacific Biosciences Announce Termination of their $1.2 billion Merger Deal

Illumina, Inc. (Illumina) and Pacific Biosciences of California, Inc. (PacBio) announced that they have mutually agreed to terminate their merger agreement. The merger was first proposed in November 2018 that Illumina would be acquiring PacBio at a fully diluted enterprise value of ~$1.2 billion. Now with the merger terminated, Illumina will have to pay a termination fee of $98 million to PacBio.