Rapid genome analysis of a Whippet sighthound sets new standard for biodiversity research

“We are demonstrating that we can obtain and analyse complete genome information in a matter of days – not months”

24-Oct-2024 - The continuing global loss of biodiversity is making it increasingly necessary to rapidly collect and analyse genetic information on endangered species. In a joint project, the Department of Human Genetics at Bioscientia Institute for Medical Diagnostics GmbH in Ingelheim am Rhein and the LOEWE ...

When is genome sequencing advisable?

Human geneticists conduct clinical reference study for the diagnosis of genetic diseases

10-Jun-2024 - Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center (UKL) have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis of genetic diseases. The jointly published study provides ...

Genome sequence of the morelle decoded

Research team uses novel technologies to investigate the complex genetic material of the sour cherry variety and draw conclusions about the origin of the fruit species

26-Mar-2024 - Sour cherries (Prunus cerasus L.) have a very large (tetraploid) genome. This is due to the fact that in the course of evolution, i.e. on the way from the wild ancestors to today's varieties, the genomes of the parents have combined. The sheer size and complexity of the genome has so far made it ...

Rare gene variants identified that play a role in hereditary male hair loss

Researchers find puzzle pieces for hair loss

27-Sep-2023 - Previous research into male pattern hair loss, also termed androgenetic alopecia, has implicated multiple common genetic variants. Human geneticists from the University Hospital of Bonn (UKB) and by the Transdisciplinary Research Unit "Life & Health" of the University of Bonn have now performed a ...

De-code of the crop

High-precision genome sequencing of buckwheat breeds hope for future harvests

24-Aug-2023 - A research group led by Kyoto University's Graduate School of Agriculture has deciphered buckwheat's high-precision chromosomal-level genome sequence, a key step toward unraveling the evolution of the buckwheat genome and the origins of the cultivated crop. By altering specific genes using a ...

New tool facilitates clinical interpretation of genetic information

25-Apr-2023 - Max Planck and Harvard research teams develop DeMAG, a new method shared as an open-source web server (demag.org) to help interpret mutations in disease genes and improve clinical decision-making. Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic ...

Novel way to identify still unknown pathogens

Evolutionary trade-offs: Balancing genetic disease risks and pathogen protection

02-Feb-2023 - Certain genes can exist in different, functionally divergent variants in the individuals of a species. If they lead to clear differences, for example in a phenotype or susceptibility to disease, this is known in biology as a polymorphism. Typical examples are a number of genes whose variants are ...

The architecture of shattered genomes

Hunting for disease clues in the dark matter of our DNA

20-Jan-2023 - Scientists have reconstructed the chromosomes of patients with an extremely high number of aberrations in their genome that could alter the expression of nearby genes and potentially cause disease. Their results were published in Nature Communications in October 2022. “We are only beginning to ...

Revealing the Genome of the Common Ancestor of All Mammals

Chromosomes stable over 300 million years

30-Sep-2022 - An international team has reconstructed the genome organization of the earliest common ancestor of all mammals. The reconstructed ancestral genome could help in understanding the evolution of mammals and in conservation of modern animals. The earliest mammal ancestor likely looked like the fossil ...

Chromatin originated in ancient microbes one to two billion years ago

Genomic and proteomic analysis reveals that the regulatory role of chromatin is a eukaryotic innovation

13-Jun-2022 - In almost every human cell, two metres-long DNA has to fit within a nucleus that is just 8 millionths of a metre wide. Like wool around a spool, the extreme space challenge requires DNA to wrap around structural proteins called histones. This coiled genetic architecture, known as chromatin, ...