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.

Should We Sequence all Genomes at Birth and Make a National Database?

In November 2019, the United Kingdom’s health secretary announced a plan to sequence the genome of every baby born in an NHS hospital starting with 20,000 children. Hancock promised that the whole genome sequencing will ensure that every child receives predictive, preventive and personalised healthcare. Needless to say, if this were to be rolled out nationally, it would be an ethical minefield!

Alzheimer’s Disease Genetic Research Consortium Launched in New York

York Governor, Andrew Cuomo, announced legislation to launch a consortium of public and private research groups to investigate the genetics of Alzheimer’s disease. The five-year initiative, called the SUNY Curing Alzheimer’s Health Consortium, will analyse the genetics of 1 million people who suffer from or are at risk of developing Alzheimer’s disease over 5 years.

First High-Quality Eurasian Otter Genome Published

Researchers from the Wellcome Sanger Institute have just released the first high-quality Eurasian Otter (Lutra lutra) genome in partnership with the Cardiff University Otter project, aiming to support the study of their biology and support conservation efforts.

WGS – The Future of Consumer Genomics

With the falling cost of genome sequencing, it comes as no surprise that there is a growing interest in expanding the availability and accessibility of genomics via consumer testing. Now, Nebula Genomics has entered the market by launching a comprehensive at-home test that analyses the whole genome for just $299.

Shareable Science: The Genetics of Coronavirus

In early December, an outbreak of respiratory illness was reported in Wuhan, China. Scientists quickly determined the sickness was caused by a new virus from the coronavirus family. In an attempt to limit the spread of the virus, China has reacted with transportation lockdowns and public health advisories.

Coronavirus Genome Now On UCSC Genome Browser

The biomolecular code of the deadly Wuhan pneumonia virus, the coronavirus, is now available to view on the UCSC Genome Browser. With nearly 41,000 cases and 910 deaths to date, the deadly virus has forced more than 50 million people to be quarantined by the Chinese government in an aim to stop the spread of the virus.

Telomere Maintenance Mutations and Cancer Cell Immortality

New research has identified mutations that could lead to the lengthening of telomeres, a hallmark of cancer cells and an important focus in developing targeted treatments. Scientists from the German Cancer Research Center looked at cancer cells to find the ways some of them achieve immortality in a study as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG).

East Asian and European Genomic Differences Found in Lung Cancer

New research from institutions in Singapore and China has identified genetic differences that occur between lung adenocarcinomas in East Asians and Europeans. Published in Nature Genetics, the researchers found that lung adenocarcinomas had more stable genomes in East Asians than in Europeans, and a stronger difference in smokers compared to non-smokers.

21 Gene Variants May be Linked to Gender Dysphoria

Gene variants that could play a role in the incongruence transgender individuals experience may have been found in the genes for oestrogen receptor pathways. Published in Nature, this study identified some of the first biological evidence that linked 21 gene variants in 19 genes with a possible role in sex-specific development during birth in an […]

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.