Genomics

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Study reveals complex and vast diversity of African genetic variation

The study, in which six Wits researchers were involved, show that these newly discovered variants were found mostly among newly sampled ethnolinguistic groups.

29 Oct 2020

Penn researchers awarded $5.4 million to find genetic risk markers for testicular cancer

The international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, MD, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over five years from the National Institutes of Health to continue the long-standing genomics work of the TEsticular CAncer Consortium (TECAC).

28 Oct 2020

Genetic analysis with RNA sequencing can increase diagnostic yield, shows study

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

28 Oct 2020

Cleveland Clinic-led study identifies features associated with pathogenic and benign variants

An international team of researchers led by Cleveland Clinic's Lerner Research Institute has performed for the first time a wide-scale characterization of missense variants from 1,330 disease-associated genes.

27 Oct 2020

UVA research sheds light on how cancer remodels our chromosomes

Cancer remodels the architecture of our chromosomes so the disease can take hold and spread, researchers at the University of Virginia have revealed.

27 Oct 2020

Study finds new transposon-derived genes related to autism

The lack of some genes in the BEC/TCEAL cluster could be related to some alterations associated with the autism spectrum disorder, according to a preclinical study published in the journal Genome Biology, and led by Professor Jordi Garcia Fernàndez, from the Faculty of Biology and the Institute of Biomedicine of the University of Barcelona, and researcher Jaime Carvajal, from the Andalusian Centre for Developmental Biology - University Pablo de Olavide.

27 Oct 2020

Genome-wide screens reveal new helpful and harmful COVID-19 related genes

Researchers at Yale University and the Broad Institute of MIT and Harvard screened hundreds of millions of cells exposed to the COVID-19 and MERS viruses and identified dozens of genes that both enable the viruses to replicate in cells and also those that seem to slam the door on the virus.

27 Oct 2020

Oral bacteria persist on wasted chewing gums for weeks

Researchers from the Institute of Integrative Systems Biology (I2SysBio), a joint center of the University of Valencia and the CSIC, have analyzed the bacteria from used chewing gums from five different countries.

23 Oct 2020

Study reveals unexpected eating habits of fringe-lipped bats

Poop is full of secrets. For scientists, digging into feces provides insights into animal diets and is particularly useful for understanding nocturnal or rare species. When animals eat, prey DNA travels all the way through animal digestive tracts and comes out again.

23 Oct 2020

Research project aims to develop sound measures to promote gender diversity in working life

The aim of the international "G-VERSITY - Achieving Gender Diversity" research project is not just to investigate the factors that depend on biological and social gender in education and career paths.

22 Oct 2020

Research findings could potentially help exploit the weaknesses of cancer cells

Every cell in our body constantly divides to form new cells. This happens without us even thinking about it. However, every single time a cell divides, a complicated process has to unfold just the right way for our cells to avoid sickness and death.

22 Oct 2020

Distinct DNA methylation signature found in the cord blood of newborns diagnosed with ASD

A new study led by UC Davis MIND Institute researchers found a distinct DNA methylation signature in the cord blood of newborns who were eventually diagnosed with autism spectrum disorder (ASD).

22 Oct 2020

New DNA-cutting tool could advance gene editing for novel treatments

Gene editing for the development of new treatments, and for studying disease as well as normal function in humans and other organisms, may advance more quickly with a new tool for cutting larger pieces of DNA out of a cell's genome, according to a new study by UC San Francisco scientists.

21 Oct 2020

Study shows ssRNA encapsidation results in stabilization of the Ebola virus nucleocapsid

The Ebola virus causes a serious infection with a mortality rate between 50% and 90%. Nucleoproteins in the virus assemble into a helical arrangement and encapsulate a single stranded RNA genome, ssRNA, to form a rodlike complex known as a nucleocapsid, which is critical to the function of the virus.

21 Oct 2020

NMR Metabolomics as Novel Screening Tool for New-borns (For Research Only)

In this interview, Oscar Millet, group leader of the Precision Medicine and Metabolism group of the CIC bioGUNE, talked to News Medical about his research into the use of nuclear magnetic resonance spectroscopy (NMR) metabolomic analysis as a clinical screening tool. His team has used NMR to screen urine samples form new-borns for congenital metabolic disorders.

From Bruker BioSpin - NMR, EPR and Imaging 20 Oct 2020

Researchers map the first draft sequence of human proteome

Twenty years after the release of the human genome, the genetic "blueprint" of human life, an international research team, including the University of British Columbia's Chris Overall, has now mapped the first draft sequence of the human proteome.

20 Oct 2020

Researchers discover gene that may help the body sense a full urinary bladder

In a National Institutes of Health (NIH)-funded study involving both mice and patients who are part of an NIH Clinical Center trial, researchers discovered that a gene, called PIEZO2, may be responsible for the powerful urge to urinate that we normally feel several times a day. The

19 Oct 2020

Cleveland Clinic joins new Center for Integrated Multi-Modal and Multi-Scale Nucleome Research

Cleveland Clinic has been named a participating institution for the newly established Center for Integrated Multi-Modal and Multi-Scale Nucleome Research, made possible by a recently awarded five-year, $6.5 million consortium grant from the National Institutes of Health Common Fund.

19 Oct 2020

Plant genetic engineering to sustainably address micronutrient malnutrition

More than two billion people worldwide suffer from micronutrient malnutrition due to deficiencies in minerals and vitamins.

16 Oct 2020

'Jumping genes' may frequently alter neural function

A new study by neuroscientists at the University of Oxford shows that mobile genetic elements that were active in the genomes of our ancestors could be closely linked to important functions in our brain and might help diversify our behavior, cognition and emotions.

16 Oct 2020