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Current Human Genome News and Events, Human Genome News Articles.
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Genomic analysis of thousands of tumors supports new cancer classification
An analysis of thousands of tumors across 33 different cancer types by researchers from The Cancer Genome Atlas (TCGA) Network supports an additional classification for human tumors. (2018-04-05)

Major milestone reached in effort to ID cancers' genetic roots
Researchers nationwide have reached a major milestone in describing the genetic landscape of cancer. Scientists at Washington University School of Medicine in St. Louis and other institutions have completed the genetic sequencing and analyses of more than 11,000 tumors from patients, spanning 33 types of cancer -- all part of The Cancer Genome Atlas (TCGA) project, funded by the National Cancer Institute and National Human Genome Research Institute. (2018-04-05)

Scientists reveal cryo-electron microscopy structure of a herpesvirus capsid at 3.1 Å
Using a combination of 'block-based' reconstruction and accurate Ewald sphere corrections, the researchers at the Institute of Biophysics of the Chinese Academy of Sciences, together with coworkers reconstructed the 3.1 Å structure of the herpes simplex virus type 2 (HSV-2) B-capsid and built the atomic model, thus expanding the understanding of the assembly mechanism of the capsid. (2018-04-05)

Even DNA that doesn't encode genes can drive cancer
The vast majority of genetic mutations associated with cancer occur in non-coding regions of the genome, yet it's unclear how they may influence tumor development or growth. Researchers at University of California San Diego School of Medicine and Moores Cancer Center identified nearly 200 mutations in non-coding DNA that play a role in cancer. Each mutation could represent a new cancer drug target. The study is published April 2 in Nature Genetics. (2018-04-02)

Researchers capture first representative of most abundant giant viruses in the sea
Bodo saltans virus, whose genome weighs in at 1.39 million bases of DNA, is one of the largest giant viruses ever isolated, and the largest known to infect zooplankton. (2018-03-28)

MSU-based bioinformaticians studied the evolution of broken genes in a fruit fly
Pseudogenes lose their ability to encode proteins and natural selection stops to notice them, as no mutations in such genes can be harmful. A study conducted with the participation of the specialists from the Faculty of Bioengineering and Bioinformatics, MSU (Lomonosov Moscow State University) confirms this fact but shows that natural selection still has certain influence on some of such genes. An article about it was published in Genome Biology and Evolution journal. (2018-03-27)

Coding at birth: Nuffield Council on Bioethics publishes briefing note on whole genome sequencing of babies
The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies. (2018-03-27)

Genome does not like to excessively change in male germ cells
Osaka University researchers report the function of GTSF1 in germ cells. The study shows that GTSF1 is an essential factor for secondary piRNA biogenesis probably through the step where PIWI-piRNA complexes grasp and/or stabilize the target RNA. The discovery gives important insights on how male germ cells avoid the genome instability caused by excessive retrotransposition. (2018-03-27)

Analysis of the 9p21.3 sequence associated with coronary artery disease
Before a conclusive link between the SDs and the cardiovascular diseases can be made, further analysis is required on the CAD interval in more patients with coronary artery disease and in the human population, using the TAR cloning technique in combination with qPCR or Droplet digital PCR developed in this work. (2018-03-26)

Yeast adaptation study finds diploids evolve more slowly than haploids
A team of Lehigh University set out to answer a basic question: how do the rates of adaptation differ between haploid and diploid organisms? They found that diploids--with two copies of the genome--evolve more slowly than haploids--with only one copy. They also that the beneficial mutations diploids pick up look different compared to what is seen in haploids. Their results have been published in a paper in Nature Ecology & Evolution. (2018-03-26)

Treating koalas for chlamydia alters gut microbes
Antibiotics used to treat koalas with chlamydia infections may be changing the balance of gut microbes that allows the marsupials to live on a diet of eucalyptus leaves, researchers at UC Davis and the University of the Sunshine Coast have found. (2018-03-26)

Does genome sequencing increase downstream costs?
The MedSeq Project, led by investigators at Brigham Women's Hospital, is the first randomized trial to provide whole genome sequencing to both presumably healthy patients as well as those with a known cardiology issue. The research team found that after six months, downstream health care costs did not significantly differ between patients who had received whole genome sequencing and those that did not. (2018-03-22)

Novel genomics tool enables more accurate identification of rare mutations in cancer cells
A new computational method developed by researchers at the New York Genome Center (NYGC) allows scientists to identify rare gene mutations in cancer cells with greater accuracy and sensitivity than currently available approaches. The technique, reported in today's Communications Biology from Nature Research publishing, is called Lancet and represents a major advance in the identification of tumor cell mutations, a process known as somatic variant calling. (2018-03-22)

Six-inch human skeleton discovered with multiple disease-associated mutations
A six-inch human skeleton was discovered with multiple disease-associated mutations. (2018-03-22)

Once-mysterious 'Atacama Skeleton' illuminates genetics of bone disease
The skeleton, discovered in a leather pouch behind an abandoned church, was pristine: a tiny figure, just six inches long, with a cone-shaped head, 10 pairs of ribs, and bones that looked like those of an eight-year-old child. Found in the Atacama Desert of Chile and later affectionately nicknamed (2018-03-22)

A mother's attention affects the genetic code of her young
In mice, a new study reveals that pups that receive less maternal care have more repeated genetic sequences, called transposons, in neurons that reside in their hippocampus. (2018-03-22)

First 'non-gene' mutations behind neurodevelopmental disorders discovered
In the largest study of its kind, genetic changes causing neurodevelopmental disorders have been discovered by scientists at the Wellcome Sanger Institute and their collaborators. The study of almost 8,000 families, published today in Nature, found for the first time that mutations outside of genes can cause rare developmental disorders of the central nervous system. The study is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders. (2018-03-21)

New insights into the late history of Neandertals
Researchers at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, have sequenced the genomes of five Neandertals that lived between 39,000 and 47,000 years ago. These late Neandertals are all more closely related to the Neandertals that contributed DNA to modern human ancestors than an older Neandertal from the Altai Mountains that was previously sequenced. Their genomes also provide evidence for a turnover in the Neandertal population towards the end of Neandertal history. (2018-03-21)

First population-scale sequencing project explores platypus history
The platypus is the ultimate evolutionary mashup of birds, reptiles and mammals. The iconic, egg-laying, venom producing, duck-billed platypus first had its genome sequenced in 2008, revealing its unique genetic makeup and its divergence from the rest of the mammals around 160 million years ago. Now, a greater effort to understand its ecological and population history has been made possible by the first, whole-scale genome sequencing efforts of 57 platypuses across Eastern Australia and Tasmania. (2018-03-20)

UC Santa Cruz research signals arrival of a complete human genome
Research from a UC Santa Cruz Genomics Institute-affiliated team just published in the journal Nature Biotechnology attempts to close huge gaps remain in our genomic reference map. The research uses nanopore long-read sequencing to generate the first complete and accurate linear map of a human Y chromosome centromere. This milestone in human genetics and genomics signals that scientists are finally entering a technological phase when completing the human genome will be a reality. (2018-03-19)

Modern humans interbred with Denisovans twice in history
Modern humans co-existed and interbred not only with Neanderthals, but also with another species of archaic humans, the mysterious Denisovans. Research published March 15 in Cell describes how, while developing a new genome-analysis method for comparing whole genomes between modern human and Denisovan populations, researchers unexpectedly discovered two distinct episodes of Denisovan genetic intermixing, or admixing, between the two. This suggests a more diverse genetic history than previously thought between the Denisovans and modern humans. (2018-03-15)

Using whole genome analysis to home in on racing pigeon performance
A scientific team led by Malgorzata Anna Gazda and Miguel Carneiro, performed the first whole genome sequencing of 10 racing pigeons as well as data from 35 different breeds, and has now identified new clues in racing pigeons that may help enhance their performance. The study also including looking at gene expression differences (using RNA sequencing expression data) in the brains and muscle tissue of racing pigeons versus other breeds. (2018-03-13)

CRISPR helps find new genetic suspects behind ALS/FTD
NIH-funded researchers used the gene editing tool CRISPR to rapidly identify genes in the human genome that might modify the severity of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) caused by mutations in a gene called C9orf72. The results of the search uncovered a new set of genes that may hasten neuron death during the disease. (2018-03-12)

Can't sleep? Could be down to genetics
Researchers have identified specific genes that may trigger the development of sleep problems, and have also demonstrated a genetic link between insomnia and psychiatric disorders such as depression, or physical conditions such as type 2 diabetes. The study in the journal Molecular Psychiatry, which is published by Springer Nature, was led by Murray Stein of the University of California San Diego and the VA San Diego Healthcare System. (2018-03-09)

Mapping the genome jungle: Unique animal traits could offer insight into human disease
An interdisciplinary team of scientists at University of Utah Health are using animals' unique traits to pinpoint regions of the human genome that might affect health. The results of this project are available in the March 6 issue of the journal Cell Reports. (2018-03-06)

Genomes of seven unusual animals reveal new parts of the human genome for disease
To unearth new functional regions in the human genome with potential roles in shaping clinically important traits, researchers searched for how elephants, hibernating bats, orcas, dolphins, naked mole rats, and ground squirrels changed critical parts of the human genome that are shared with most other mammals. These regions are highly conserved, but to evolve their highly distinctive traits, these seven species had to change how these conserved DNA elements work. (2018-03-06)

Stem cell 'twins' to study disease
Researchers report a new gene editing method that can modify a single DNA base in the human genome with absolute precision. (2018-03-05)

Genes for age-linked brain deterioration identified
A group of genes and genetic switches involved in age-related brain deterioration have been identified by scientists. The research found that changes to one of these genes, Dbx2, could prematurely age brain stem cells, causing them to grow more slowly. By comparing the genetic activity in brain cells from old and young mice, the scientists identified over 250 genes that changed their level of activity with age. (2018-03-05)

'Filter' hones GWAS results to help researchers avoid dead ends
A genetics research team at Johns Hopkins Medicine has solved a dilemma facing researchers who use genomewide association studies (GWAS) by developing a new approach that strategically 'filters' which genes are worth further study. The researchers hope this strategy will accelerate the study of diseases such as Parkinson's, Alzheimer's, schizophrenia and even addiction by helping researchers avoid 'dead-end paths.' They are optimistic that this strategy will gain widespread use and will save researchers time and money. (2018-03-05)

How are we related? A Compara-bly easy workflow to find gene families
Researchers at Earlham Institute have released 'GeneSeqToFamily', an open-source Galaxy workflow that helps scientists to find gene families based on the powerful 'EnsemblCompara GeneTrees' pipeline. (2018-03-05)

Researchers pinpoint gene responsible for neurodevelopmental disorders, including autism
Researchers found alterations of the gene thousand and one amino-acid kinase 2, known as TAOK2, plays a direct role in neurodevelopmental disorders, including autism. This is the first comprehensive study that supports previous research suggesting the involvement of this gene. (2018-03-05)

Researchers use cigarette smoking behavior to identify genes that regulate blood pressure
Using a technique that is opening the door to more complex analyses of the human genome, researchers have identified dozens of new genetic variations that affect blood pressure. Scientists discovered the new genetic regions--and confirmed the role of many previously known ones--by looking specifically at cigarette smoking behavior, one of many lifestyle factors that impact blood pressure. (2018-03-01)

Here's how viruses inactivate the immune system, causing cancer
'The same mechanisms that viruses use to cause cancer may be key in combating tumors with immune-based therapies or in keeping cancer from developing in the first place,' says Sharon Kuss-Duerkop, PhD. (2018-03-01)

Why premature cell division promotes cancers
The accumulation of mutations in the human genome is at the origin of cancers, as well as the development of resistance to treatments. The Cyclin E and Myc genes are active in the control of cell division. Biologists from the University of Geneva show that precocious entry of the genome into the replication phase leads to molecular collisions occurring on the DNA and induces new mutations. (2018-02-28)

Why are there so many types of lizards?
Researchers from Arizona State University School of Life Sciences and Smithsonian Tropical Research Institute have sequenced the complete genetic code -- the genome -- of several vertebrate species from Panama. They found that changes in genes involved in the interbrain (the site of the pineal gland and other endocrine glands), for color vision, hormones and the colorful dewlap that males bob to attract females, may contribute to the formation of boundaries between species. Genes regulating limb development also evolved especially quickly. (2018-02-23)

Modification of CRISPR guide RNA structure prevents immune response in target cells
CRISPR-mediated genome editing has become a powerful tool for modeling of disease in various organisms and is being developed for clinical applications. Preassembled Cas9 ribonucleoproteins (RNPs) composed of the recombinant Cas9 protein and in vitrotranscribed (IVT) guide RNA complexes can be delivered into cells without risk of foreign DNA integration into the host genome and with fewer off-target effects. However, in a study published today in Genome Research, scientists discovered in vitro-transcribed gRNAs, containing a 5' triphosphate (5'ppp) moiety, activate the immune response in human cells leading to cell death. (2018-02-22)

Five novel genetic changes linked to pancreatic cancer risk
In what is believed to be the largest pancreatic cancer genome-wide association study to date, researchers at the Johns Hopkins Kimmel Cancer Center and the National Cancer Institute, and collaborators from over 80 other institutions worldwide discovered changes to five new regions in the human genome that may increase the risk of pancreatic cancer. (2018-02-21)

New analytical method provides an insight into additional chromosomes
A new technique promises to identify additional chromosomes involved in carcinogenesis. A method for analyzing additional chromosomes was proposed by a team of scientists at the Institute of Molecular and Cellular Biology and the Institute of Cytology and Genetics (Siberian branch of Russian Academy of Sciences), NSU Laboratory of Structural, Functional and Comparative Genomics and the University of Belgrade (Serbia) and published in the journal Chromosoma. (2018-02-21)

A delivery platform for gene-editing technology
A nanomaterial coating enables efficient delivery of CRISPR-Cas9 machinery into the cell. (2018-02-20)

Study identifies traces of indigenous 'Taíno' in present-day Caribbean populations
A thousand-year-old tooth has provided the first clear genetic evidence that the Taíno -- the indigenous people whom Columbus first encountered on arriving in the New World -- still have living descendants today, despite erroneous claims in some historical narratives that these people are extinct. The findings are likely to have particular resonance for people in the Caribbean and the US who claim Taíno ancestry, but have until now been unable to prove definitively that such a thing is possible. (2018-02-19)

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