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Latest Human genetics Stories

2014-07-02 12:20:39

The JAMA Network Journals Use of exome sequencing improved the ability to identify the underlying gene mutations in patients with biochemically defined defects affecting multiple mitochondrial respiratory chain complexes (enzymes that are involved in basic energy production), according to a study in the July 2 issue of JAMA. Defects of the mitochondrial respiratory chain have emerged as the most common cause of childhood and adult neurometabolic disease, with an estimated prevalence of...

2014-06-03 11:12:46

European Society of Human Genetics With services based on exome sequencing becoming affordable to patients at a reasonable price, the question of the quality of the results provided has become increasingly important. The exome is the DNA sequence of genes that are translated into protein. These protein-coding regions contain most of the currently-known disease-causing genetic mutations. The American College of Medical Genetics and Genomics (ACMG) has recommended the reporting to patients...

2014-05-28 08:31:46

HARDERWIJK, The Netherlands, May 28, 2014 /PRNewswire/ -- Today GENALICE proudly announced the planned release of an upgraded version of its Next-Generation Sequencing (NGS) DNA data processing software solution GENALICE MAP, at the European Society of Human Genetics conference in Milan later this week. Featuring the new 5-minute Variant Caller, the company is now capable of processing the DNA data of an entire human genome with 40x depth within 30 minutes on a commodity dual...

2014-04-22 08:29:11

Study Results Are Published in The American Journal of Human Genetics SALT LAKE CITY, April 22, 2014 /PRNewswire-USNewswire/ -- A new computational tool developed at the University of Utah has successfully identified diseases with unknown gene mutations in three separate cases, University of Utah researchers and their colleagues report in The American Journal of Human Genetics. The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed...

Using Supercomputers To Speed Up Genome Analysis
2014-02-20 11:11:12

Lee Rannals for redOrbit.com - Your Universe Online Researchers writing in the journal Bioinformatics say that genome analysis can be radically accelerated. Over the years, the cost of sequencing an entire human genome has dropped, but analyzing three billion base pairs of genetic information from a single genome can take months. A team from the University of Chicago is reporting that one of the world’s fastest supercomputers is able to analyze 240 full genomes in about two days....

New Interactive Map Reveals Human History Of Genetic Mixing
2014-02-14 06:41:32

Lawrence LeBlond for redOrbit.com - Your Universe Online A multi-institutional team of researchers this week published in the journal Science a study identifying, dating and characterizing the genetic mixing between populations around the world. Along with the study, the team released an interactive map detailing the histories of this genetic mixing. Researchers from Max Planck Institute for Evolutionary Anthropology, Oxford University and University College London developed...

Genome Analysis Reveals Origins Of Genetic Adaptations For High Altitude In Tibetans
2014-02-11 09:00:22

University of Chicago Medical Center Genetic adaptations for life at high elevations found in residents of the Tibetan plateau likely originated around 30,000 years ago in peoples related to contemporary Sherpa. These genes were passed on to more recent migrants from lower elevations via population mixing, and then amplified by natural selection in the modern Tibetan gene pool, according to a new study by scientists from the University of Chicago and Case Western Reserve University,...

Neanderthal Genome Survives In Modern Humans
2014-01-30 04:32:46

redOrbit Staff & Wire Reports - Your Universe Online More than 20 percent of the Neanderthal genome survives in modern human populations, and individuals currently living outside of Africa are composed of between one and four percent Neanderthal DNA, according to a pair of new research papers published on Wednesday. In the first study, population geneticists Benjamin Vernot and Joshua M. Akey of the University of Washington’s Department of Genome Sciences used a new approach to...

New Method Allows Researchers To Sort Out DNA Contamination
2014-01-28 06:53:19

April Flowers for redOrbit.com - Your Universe Online Special precautions are usually a part of retrieving ancient DNA to prevent DNA from researchers or the environment from mixing with that of the fossil. Many ancient fossils, however, have been lying forgotten in museum collections for decades that have become contaminated with present-day human DNA before even entering the laboratory. A solution for this problem, published in Proceedings of the National Academy of Sciences (PNAS),...

Neanderthals Buried Their Dead
2013-12-17 07:44:47

redOrbit Staff & Wire Reports - Your Universe Online A 50,000-year-old Neanderthal skeleton discovered in a cave in southwestern France was intentionally buried, a finding that confirms burials took place in Western Europe prior to the arrival of modern humans. “This discovery not only confirms the existence of Neanderthal burials in Western Europe, but also reveals a relatively sophisticated cognitive capacity to produce them,” said William Rendu, the study’s lead author and...


Word of the Day
Cthulhu
  • A gigantic fictional humanoid alien god being described with a head resembling an octopus and dragon wings and claws, around whom an insane cult developed.
  • Pertaining to the mythos of Cthulhu and additional otherworldly beings created by H. P. Lovecraft or inspired by his writings and imitators.
This word was invented in 1926 by H.P. Lovecraft for his short story, 'The Call of Cthulhu.' 'Cthulhu' may be based on the word 'chthonic,' which in Greek mythology refers to the underworld.
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