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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 ...

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How to find marker genes in cell clusters

New method facilitates identification of cell-type specific genes in single-cell data

06-Jul-2022

The thousands of cells in a biological sample are all different and can be analyzed individually, cell by cell. Based on their gene activity, they can be sorted into clusters. But which genes are particularly characteristic of a given cluster, i.e. what are its “marker genes”? A new statistical ...

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More than the sum of mutations

165 new cancer genes identified with the help of machine learning

19-Apr-2021

A new algorithm can predict which genes cause cancer, even if their DNA sequence is not changed. A team of researchers in Berlin combined a wide variety of data, analyzed it with “Artificial Intelligence” and identified numerous cancer genes. This opens up new perspectives for targeted cancer ...

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Breaks in the genome

New method to improve the diagnosis of genetic diseases

28-Jul-2020

Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of such defects, but is not used in the clinic yet. A team of researchers at ...

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Swiss Army Knife for Genome Research

Multifunctional tool CRUP makes enhancer prediction quick and easy

21-Nov-2019

It is the the dream of every molecular geneticist: an easy-to-use program that compares data sets from different cellular conditions, identifies enhancer regions and then assigns them to their target genes. A research team led by Professor Martin Vingron at the Max Planck Institute for Molecular ...

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Decoding Lil BUB: Crowdfunded project reveals genome of internet celebrity cat

06-Mar-2019

Lil BUB has drawn millions of followers across the internet for her cute appearance. Behind the celebrity cat’s unique features is a combination of two rare genetic variants, three molecular biologists from Germany and the US report. The results of their crowdfunded project “LilBUBome” are now ...

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New diagnostic method identifies genetic diseases

PhenIX can identify genetic diseases quickly and reliably based on analyses of genes and symptoms

19-Sep-2014

People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. Scientists from the Charité - Universitätsmedizin Berlin and the Max Planck ...

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