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Story of silver birch from genomic big data

A recent study utilizing genomic big data analyzed the silver birch genome, uncovering population bottlenecks and speciation events that shaped the species' current form. The research also identified genes under natural selection, which have contributed to birch's cold tolerance and rapid growth.

SourceUniversity of Helsinki·JournalNature Genetics·DateMay 10, 2017

Woolly mammoths experienced a genomic meltdown just before extinction

Researchers compared the genomes of a 45,000-year-old mainland mammoth with one from Wrangel Island, which had only 300 animals. The analysis revealed an excess of genetic defects, including loss of olfactory receptors and urinary proteins. This study provides insights into the effects of small population sizes on genome deterioration.

SourcePLOS·JournalPLOS Genetics·DateMar 2, 2017

Accelerating genome analysis

The new software, SIFT 4G, accelerates genome analysis by preparing predictions at a much higher speed, reducing processing time from 25 days to just three days on a single GPU. This enables researchers to analyze genomes in five minutes, advancing science and developing technology that can benefit human health.

SourceBiomedical Sciences Institutes (BMSI)·JournalNature Protocols·DateFeb 22, 2016

European Society of Human Genetics urges caution over use of new genetic sequencing techniques

The European Society of Human Genetics urges caution on using new genetic sequencing techniques due to potential risks and benefits. The society recommends targeted analysis to limit unsolicited findings, ensuring patients' rights are protected while also providing them with necessary health information.

SourceEuropean Society of Human Genetics·JournalEuropean Journal of Human Genetics·DateMay 16, 2013

Comprehensive transcriptome analysis of human ENCODE cells

A comprehensive transcriptome analysis of human ENCODE cells reveals widespread RNA transcripts and epigenetic links, assigning biochemical functions to 80% of the human genome. The study provides powerful data sets for delineating functional elements across the human genome.

SourceRIKEN·JournalNature·DateSep 5, 2012

Galaxy DNA-analysis software is now available 'in the cloud'

The Galaxy platform is now available as a cloud computing resource, providing researchers with access to powerful computing power and vast data storage capacity. This development enables scientists to perform large-scale DNA analyses without investing in expensive computer infrastructure.

SourcePenn State·JournalNature Biotechnology·DateNov 8, 2011

BGI reports rapid open-source genomic analyses accelerated global studies on deadly E. coli O104:H4

A team of scientists used BGI's rapid, bench-top DNA sequencing technology to analyze the deadly E. coli O104:H4 outbreak in Germany, revealing a new model of international collaboration for infectious disease control. The study found that genome sequencing provides the foundation to identify and characterize novel pathogens.

SourceBGI Shenzhen·JournalNew England Journal of Medicine·DateJul 27, 2011

Bedouin tribe reveals secrets to McGill's GA-JOE

Researchers from McGill University have discovered that mutations in the SCARF2 gene are responsible for Van Den Ende-Gupta syndrome, an extremely rare genetic disorder characterized by unique head and facial features. The study utilized a high-tech genome analyzing machine to quickly sequence coding portions of the human genome and id...

SourceMcGill University·JournalAmerican Journal of Human Genetics·DateSep 30, 2010

Powerful genome barcoding system reveals large-scale variation in human DNA

A powerful new genome barcoding system has revealed large-scale structural variations in the human genome, including variations of thousands to hundreds of thousands of DNA's smallest pieces. This technology allows for a comprehensive view of the human genome and may lead to breakthroughs in disease treatment and personalized genomics.

SourceUniversity of Wisconsin-Madison·JournalProceedings of the National Academy of Sciences·DateMay 31, 2010

Genomic analysis to become tool for studying trauma patients

Researchers created a genomic analysis tool to study critically ill patients, enabling physicians to predict treatment responses and develop new therapeutic strategies. The technology allows for the detection of significant gene activity differences between trauma patients and healthy individuals.

SourceWashU Medicine·JournalProceedings of the National Academy of Sciences·DateMar 18, 2005

Researchers rein in regulatory RNAs

The study reveals that antisense transcripts (SATs) are widely expressed in various mouse tissues and cell cultures, exhibiting tissue-specific expression patterns. SATs tend to be poly(A)-negative and enriched in the nucleus, suggesting a functional role in gene regulation.

SourceCold Spring Harbor Laboratory·JournalGenome Research·DateMar 14, 2005

Busy sequencing technique saves money and time

A computer scientist at Washington University in St. Louis has developed a novel technique to extract more DNA from a single sequence reaction, reducing both cost and time of the sequencing process. The approach uses software that sorts through genetic information and finds predicted sequences, with 59% of predicted genes verified as e...

SourceWashington University in St. Louis·JournalGenome Research·DateMay 10, 2004