RSS feedhttps://birc.au.dk/en-gbTue, 19 Mar 2024 02:32:29 +0100Tue, 19 Mar 2024 02:32:29 +0100TYPO3 EXT:newsnews-9432Fri, 29 Sep 2023 14:37:53 +02002 Vacant Positions at the Bioinformatics Research Centre (BiRC), Department of Molecular Biology and Geneticshttps://birc.au.dk/news-events/news/show/artikel/2-vacant-positions-at-the-bioinformatics-research-centre-birc-part-of-dept-of-molecilar-biology-and-geneticsApplication deadline Dec 14: Professor in Bioinformatics at Aarhus University

Application deadline Dec 14: Tenure-Track Assistant Professor in Bioinformatics at Aarhus University

Please forward to relevant applicants in you network!

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News typePositionsEllen Bernadette Noer16959910731695991073
news-7204Tue, 26 Apr 2022 16:20:26 +0200Professor Mikkel Heide Schierup has received an ERC Advanced Grant.https://nat.au.dk/en/about-the-faculty/news/show/artikel/186-mio-kr-til-forskning-i-artsdannelseProfessor Mikkel Heide Schierup has received EUR 2.5 million, corresponding to approx. DKK 18.6 million, in the form of an ERC Advanced Grant. Professor Schierup's ground-breaking project is called ‘X-chromosome driven speciation through testes-expressed genes: comparative population genomics meets scRNA analysis in primates’. Fortunately, the project title has been shortened to the acronym Xspect. The purpose of the project is to learn about the processes that govern the formation of new primate species, including ourselves.AwardsPress releaseResearch news16509828261650982826news-6273Mon, 13 Sep 2021 14:55:00 +0200Neanderthal genes tell us about how old our ancestors were when they had childrenhttps://birc.au.dk/news-events/news/show/artikel/neanderthal-genes-tell-us-about-how-old-our-ancestors-were-when-they-had-childrenThe authors from Aarhus University in Denmark and the Max Planck Institute for Evolutionary Anthropology in Germany with PhD student Moisès Coll Macià, BiRC, as first author of the study used Neanderthal fragments scattered in non-African genomes as molecular clocks to estimate generation intervals in Eurasian and American populations.Read the entire press release about the new publication here

The article, Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and mutation signatures, was published in Nature Communications, September 2021.

Find the article here DOI 10.1038/s41467-021-25524-4 

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Research newsEllen Bernadette Noer16315377001631537700
news-6210Wed, 07 Jul 2021 14:57:00 +0200New methods for predicting complex traitshttps://birc.au.dk/news-events/news/show/artikel/doug-speed-together-with-colleagues-from-birc-and-ncrr-have-recently-developed-improved-methods-foDoug Speed, together with colleagues from BiRC and NCRR, have recently developed improved methods for predicting complex traits. Their work has this week been published in the journal Nature Communications. There is currently great interest in being able to use an individual's genetic information to predict their phenotypes. This is especially important for personalized medicine, which aims to accurately predict which individuals will develop particular diseases or will benefit from particular medications.

Doug and colleagues have observed that most existing prediction tools assume that each genetic variant is equally important. This assumption is sub-optimal, because recent work has shown that the importance of a variant depends on factors such as its frequency, local levels of linkage disequilibrium and functional annotations. Therefore, this new paper presents eight new prediction tools that allow for alternative assumptions, and shows that this enables substantially improved prediction across a wide range of traits.

Four of the new tools use individual-level data. The paper shows that the best of these, LDAK-Bolt-Predict, outperforms the existing tools Lasso, BLUP, Bolt-LMM and BayesR for all 14 phenotypes considered. The remaining four new tools use summary statistics. The paper shows that the best of these, LDAK-BayesR-SS, outperforms the existing tools lassosum, sBLUP, LDpred and SBayesR for 223 of the 225 phenotypes considered. On average, the new tools outperform the existing tools by 14% (sd 1), which is equivalent to increasing the sample size by about a quarter.

You can read more about the new tools in the paper "Improved genetic prediction of complex traits from individual-level data or summary statistics" (https://www.nature.com/articles/s41467-021-24485-y), and try out the new tools in the software packages LDAK (www.ldak.org) and bigstatsr (https://github.com/privefl/bigstatsr).

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Research newsEllen Bernadette Noer16256626201625662620
news-5426Thu, 23 Apr 2020 12:24:00 +0200Icelandic DNA jigsaw-puzzle brings new knowledge about Neanderthalshttps://nat.au.dk/en/about-the-faculty/news/show/artikel/islandsk-dna-puslespil-giver-ny-viden-om-neandertalere/An international team of researchers has put together a new image of Neanderthals based on the genes Neanderthals left in the DNA of modern humans when they had children with them about 50,000 years ago. The researchers found the new pieces of the puzzle by trawling the genomes of more than 27,000 Icelanders. Find the scientific article here: The nature of Neanderthal introgression revealed by 27,566 Icelandic genomes... 

See the press release here:

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Research newsEllen Bernadette Noer15876374401587637440
news-5409Wed, 25 Mar 2020 15:22:00 +0100Evaluating and Improving Heritability Models using Summary Statisticshttps://birc.au.dk/news-events/news/show/artikel/evaluating-and-improving-heritability-models-using-summary-statisticsBiRC member Doug Speed, in collaboration with David Balding and John Holmes (University of Melbourne), has recently developed a new tool that improves our understanding of the genetic factors underlying complex traits. Details of the tool have been published this week in the journal Nature Genetics.

The human genome contains millions of genetic variants, the most simple of which are single nucleotide polymorphisms (SNPs). These SNPs influence a wide range of complex traits. For example, they determine how likely we are to develop psychiatric traits such as schizophrenia, autoimmune traits such as Crohn's Disease, or cardiovascular traits such as heart disease. When we analyze SNP data, it is often necessary to specify a "heritability model", which describes in advance how much we think each SNP will contribute. It turns out that for many analyses, the choice of heritability model is very important (i.e., if we change the heritability model, it substantially changes the results of the analysis). In recent years, many different heritability models have been proposed, but until now, there has been no way to decide which of these is the best one to use.

In his current work, Doug presents a tool for evaluating and improving heritability models. He first uses this tool to determine which existing heritability model is best, then to create a new model that is more realistic than any previously proposed. Finally, he uses this new heritability model to improve our understanding of 31 complex traits; for example, to quantify how much different types of SNPs influence different traits, and to measure the impact of natural selection.

According to Doug, "The new tool not only improves our understanding of complex traits now, but will also enable us to more efficiently analyze future data." With this in mind, Doug has integrated the new tool into his software package LDAK (www.ldak.org), so that it is freely available for other researchers to apply to their own data. For more details, see the article "Evaluating and Improving Heritability Models using Summary Statistics".

Read the article 'Evaluating and improving heritability models using summary statistics' here.

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Research newsEllen Bernadette Noer15851461201585146120
news-5357Thu, 06 Feb 2020 14:52:00 +0100 Unprecedented exploration generates most comprehensive map of cancer genomes charted to datehttps://birc.au.dk/news-events/news/show/artikel/unprecedented-exploration-generates-most-comprehensive-map-of-cancer-genomes-charted-to-datePan-Cancer Project discovers causes of previously unexplained cancers, pinpoints cancer-causing events and zeroes in on mechanisms of development.  

 

 

 

An international team has completed the most comprehensive study of whole cancer genomes to date, significantly improving our fundamental understanding of cancer and signposting new directions for its diagnosis and treatment.

 

 

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Project (PCAWG), known as the Pan-Cancer Project), a collaboration involving more than 1,300 scientists and clinicians from 37 countries, analyzed more than 2,600 genomes of 38 different tumour types, creating a huge resource of primary cancer genomes. This was then the launch-point for 16 working groups studying multiple aspects of cancer’s development, causation, progression and classification. 

Read the press release 'Unprecedented exploration generates most comprehensive map of cancer genomes charted to date' here.

Read the Danish Press release 'Globalt studie kortlægger kræftmutationer i stort katalog' here.

Read the special edition of Nature, in which most of the PCAWG consortium's results are collected and published, here.

Read the article 'Analyses of non-coding somatic drivers in 2,658 cancer whole genomes' here.

Read more about the PCAWG Consortium here.

 

 

 

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Research newsEllen Bernadette Noer15809971201580997120
news-5322Fri, 17 Jan 2020 15:17:00 +0100Single cell sequencing has a potential for disentangling causes of azoospermiahttps://birc.au.dk/news-events/news/show/artikel/single-cell-sequencing-has-a-potential-for-disentangling-causes-of-azoospermiaAzoospermia - or the absence of spermatozoa - is one of the causes of infertility, a problem faced by ~15% of couples. Azoospermic testis shows different characteristics and probably causes over different groups of patients. New single cell sequencing technologies allow the study of a tissue cell by cell, but analysis of such complex and big data is still a developing and debated area. In this new study, researchers illustrate the potential and challenges in analyzing tissues at a single cell resolution, discussing future clinical applications and disentanglement of the causes and characteristics of azoospermia. Read the article at https://link.springer.com/article/10.1007/s00439-020-02116-8

The article includes an interactive dataset of human testis at  https://cells.ucsc.edu/?ds=testis

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Research newsEllen Bernadette Noer15792706201579270620
news-5321Tue, 14 Jan 2020 14:38:00 +0100Plant genomes reveal the basis for adaptation to contrasting climateshttps://birc.au.dk/news-events/news/show/artikel/plant-genomes-reveal-the-basis-for-adaptation-to-contrasting-climatesIn the face of rapid climate change, it is important that plants can adapt quickly to new conditions to ensure their survival. Using field experiments and plant genome studies, an international research team has pinpointed areas of the genome that are affected during local adaptation to contrasting climates.Link to the news article from the Department of Molecular Biology and Genetics.

Link to the scientific article in Nature Communications.

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Research newsEllen Bernadette Noer15790090801579009080
news-5307Mon, 06 Jan 2020 14:14:00 +0100New forensic chemistry method to reveal the age of bloodstains and fingerprintshttps://birc.au.dk/news-events/news/show/artikel/new-forensic-chemistry-method-to-reveal-the-age-of-bloodstains-and-fingerprintsA fingerprint, a bloodstain or other biological material are some of the traces the police search for at a crime scene. With the help of the biological traces, a person or perpetrator can be tied to a crime scene. However, until now it has not been technically possible to determine when a fingerprint or other trace was made and thus determine whether it is relevant to the investigation. Researchers from the Section of Forensic Chemistry and from the Bioinformatics Research Centre at Aarhus University are collaborating with researchers from the Department of Food Science at the University of Copenhagen, as well as the National Forensic Services at the Danish National Police, on the development of an analytical method that clarifies the age of biological traces. The method will potentially determines whether a person or perpetrator was at the scene at the time a crime was committed. Find the press release from Aarhus University here.

Newspaper article from Berlingske Sunday December 15, 2019.

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Research newsEllen Bernadette Noer15783164401578316440