Genomics

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AI algorithm accurately detects disease-causing variants in infants with rare diseases

Fabric Genomics and Rady Children's Institute for Genomic Medicine today announced the publication of a retrospective study in Genome Medicine showing that across six leading genomic centers and hospitals, researchers were able to detect more than 90% of disease-causing variants in infants with rare diseases using the Fabric GEM AI algorithm and whole-genome and whole-exome data from previously diagnosed newborns and rare disease patients at Rady Children's Hospital - San Diego and other clinical sites.

15 Oct 2021

Mapping proteo-genomic connections between different human diseases

Hundreds of connections between different human diseases have been uncovered through their shared origin in our genome by an international research team led by scientists from the Medical Research Council Epidemiology Unit at the University of Cambridge, challenging the categorization of diseases by organ, symptoms, or clinical specialty.

15 Oct 2021

Genes play a significant role in how the body responds to exercise, finds study

A new study has found that genes play a significant role in how our bodies respond to exercise and has identified a number of specific genes that influence the outcomes of different kinds of physical activity.

15 Oct 2021

Qatar genomics study reveals key historical and social insights into Arab populations

Researchers in Qatar have unveiled a high-resolution map of the genetic structure of Arab and Middle Eastern populations, providing new insights into human history in the region and ancestral patterns that may help to explain local human traits and disease risks.

15 Oct 2021

Genome of obese Ossabaw pig could provide new insights into human obesity

Mapping of the complete genome of the obesity-prone Ossabaw pig gives new hope for further insights into human obesity and associated diseases.

14 Oct 2021

Study identifies DNA mutations linking liver disease with obesity and diabetes

For the first time, DNA mutations in liver cells have been identified that impact metabolism and insulin sensitivity in patients with liver disease.

13 Oct 2021

Study identifies a new detrimental effect of genes that cause inherited diseases

Scientists have identified a new detrimental effect of genes that cause inherited diseases, publishing their results today in eLife.

12 Oct 2021

A new technique for long-term preservation of fruit fly populations

The fruit fly Drosophila melanogaster has long been an important experimental model for biological research. While you may be eager to rid your kitchen of this unwanted pest, researchers in Japan have developed a new technique to keep Drosophila in the laboratory even longer.

12 Oct 2021

Single-genome sequencing reveals malaria parasite genetics and evolution

Understanding how malaria parasites evolve after a human is bitten by an infected mosquito is very difficult. There can be billions of individual parasites in a patient's bloodstream and traditional genetic sequencing techniques can't identify the raw material for evolution: new mutations.

12 Oct 2021

CAST brings advancements in genomic medicine to admixed individuals

One way to make health care more personalized is to use a person's DNA sequence — or genome — to predict their risk of disease. But as the field of precision medicine grows, so have concerns that we may be leaving a large fraction of Americans out.

12 Oct 2021

Using genetic screening for selecting the 'best' embryo in IVF

Each year, tens of thousands of babies are born in the United States as the result of IVF (in vitro fertilization) – where several eggs are fertilized outside the mother's body and then an embryo is selected for transfer into her womb.

12 Oct 2021

New federated analytics system can act as a game-changer towards personalized medicine

Predictive, preventive, personalized and participatory medicine, known as P4, is the healthcare of the future. To both accelerate its adoption and maximize its potential, clinical data on large numbers of individuals must be efficiently shared between all stakeholders.

11 Oct 2021

CRISPR/Cas9-directed epigenetic editing reveals diverse transcriptomic regulation and functional effects

Oncotarget published "Diverse transcriptional regulation and functional effects revealed by CRISPR/Cas9-directed epigenetic editing" which reported that the adequate functioning of this process is indispensable for tissue homeostasis and cell fate determination.

11 Oct 2021

New algorithm provides a high-definition analysis of genome organization in single cells

Within the microscopic boundaries of a single human cell, the intricate folds and arrangements of protein and DNA bundles dictate a person's fate: which genes are expressed, which are suppressed, and -; importantly -; whether they stay healthy or develop disease.

11 Oct 2021

CDC and ClinGen partner to develop expert curated variant list for the genomic community

The Centers for Disease Control and Prevention's Genetic Testing Reference Material Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 expert curated pathogenic variants in 84 genes for use in next-generation sequencing (NGS) genetic testing.

11 Oct 2021

New metagenome assembler can generate accurate DNA sequences

Metagenomics often involves sequencing DNA samples that can only be described as "tricky." Such DNA shows high heterogeneity, which can cause interspecies misassemblies.

11 Oct 2021

Study traces the evolution of hepatitis B virus since prehistoric times

A study published in the journal Science traces the evolution of the hepatitis B virus from prehistory to the present, revealing dissemination routes and changes in viral diversity. Domingo Carlos Salazar García, researcher from the Prehistory, Archeology and Ancient History Department of the University of Valencia, has participated in this study led by the Max Planck Institute for the Science of Human History (Germany).

8 Oct 2021

Penn State researchers sequence bacteria genomes to enhance the early detection of novel pathogens

To enhance the early detection of novel infectious bacteria that could cause outbreaks of infectious disease and public health emergencies, a team of researchers in Penn State's College of Agricultural Sciences will sequence the genomes of 700 Bacilli bacteria -; near relatives of the biothreat pathogen that causes anthrax.

8 Oct 2021

Depression during pregnancy linked with chemical modifications to placental genes

Episodes of maternal stress or depression during pregnancy are associated with chemical modifications to placental genes, according to a study by researchers from the National Institutes of Health.

6 Oct 2021

First of its kind ‘living medicine’ designed to treat antibiotic-resistant bacteria on medical implants

Researchers at the Centre for Genomic Regulation and Pulmobiotics S.L have created the first 'living medicine' to treat antibiotic-resistant bacteria growing on the surfaces of medical implants. The researchers created the treatment by removing a common bacteria's ability to cause disease and repurposing it to attack harmful microbes instead.

6 Oct 2021

Genomics

AI algorithm accurately detects disease-causing variants in infants with rare diseases

Mapping proteo-genomic connections between different human diseases

Genes play a significant role in how the body responds to exercise, finds study

Qatar genomics study reveals key historical and social insights into Arab populations

Genome of obese Ossabaw pig could provide new insights into human obesity

Study identifies DNA mutations linking liver disease with obesity and diabetes

Study identifies a new detrimental effect of genes that cause inherited diseases

A new technique for long-term preservation of fruit fly populations

Single-genome sequencing reveals malaria parasite genetics and evolution

CAST brings advancements in genomic medicine to admixed individuals

Using genetic screening for selecting the 'best' embryo in IVF

New federated analytics system can act as a game-changer towards personalized medicine

CRISPR/Cas9-directed epigenetic editing reveals diverse transcriptomic regulation and functional effects

New algorithm provides a high-definition analysis of genome organization in single cells

CDC and ClinGen partner to develop expert curated variant list for the genomic community

New metagenome assembler can generate accurate DNA sequences

Study traces the evolution of hepatitis B virus since prehistoric times

Penn State researchers sequence bacteria genomes to enhance the early detection of novel pathogens

Depression during pregnancy linked with chemical modifications to placental genes

First of its kind ‘living medicine’ designed to treat antibiotic-resistant bacteria on medical implants

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

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