The code does not place unrealistic demands on scientists, says Himla Soodyall, director
of the Human Genomic Diversity and Disease Research Unit at South Africa's University of the Witwatersrand in Johannesburg.
Up to 98 percent
of human genomic matter is known as «junk» or «dark matter» non-coding DNA, and had for years attracted little interest among scientists who doubted its role in human health and disease.
«We are analyzing massively large sets
of human genomic data to ultimately improve our understanding of genetic basis of diseases.»
These reference standards consist
of human genomic DNA fragmented to 160 base pairs, representative of plasma - derived cfDNA, and are provided as a set of precisely defined allelic frequencies from as low as 0.1 %.
And let's face it, exome sequencing lets us conveniently avoid some of the most challenging aspects
of human genomics, like detecting complex rearrangements (SVs) and interpreting noncoding regulatory variants.
Elected by his peers, Liu was recognized for his distinguished contributions to cancer biology, particularly the molecular analysis of breast cancer, and to the global advancement
of human genomics.
The Eli and Edythe Broad Foundation invests in innovative scientific and medical research in the areas
of human genomics, stem cell research and inflammatory bowel disease.
The Broad Foundation invests in scientific and medical research in the areas
of human genomics, stem cell research and inflammatory bowel disease.
Not exact matches
Shorn
of human weaknesses like the need to eat or sleep, computers are now speed - reading through not only the vast academic literature but also CT scans, electronic medical records, and mountains
of data from clinical trials and
genomic studies.
His institute is a leading research organization dedicated to
genomic research, and he's the co-founder, chairman and CEO
of Human Longevity.
His institute is a leading organization dedicated to
genomic research, and he's the co-founder, executive chairman and CEO
of Human Longevity.
Using advances in
genomic sequencing, the
human microbiome, proteomics, informatics, computing, and cell therapy technologies, HLI is building the world's most comprehensive database
of human genotypes and phenotypes as a basis for a variety
of commercialization opportunities to help solve aging related disease and
human biological decline.
Sir John Bell, professor
of medical sciences at Oxford University and government advisor on
human genomics believes this will transform cancer treatment in the UK.
«Now, using
genomic methods that were not available 10 years ago, it appears that components made by the virus interact with
human DNA in the places where the genetic risk
of disease is increased,» Harley says.
Last June, he switched to the Department
of Human DNA Variability at the Centre for
Genomic and Oncological Research in Granada.
«
Human and chimpanzee genes differ very little, so one hypothesis in evolutionary
genomics holds that
humans and chimpanzees are so phenotypically different because
of differences in the way they regulate gene expression.
«However, because SIF - seq only requires DNA sequence from a mammal and can be used in a variety
of cell types, it should be possible to compare the neuronal enhancers present in a large
genomic region from
human to the neuronal enhancers present in the orthologous chimpanzee region.
The U.S. National Institutes
of Health (NIH) has made major investments in network approaches in many areas, including cancer biology, cardiovascular and metabolic diseases, neurophysiology, and
human genetics and
genomics.
Even though Rienhoff is the founder
of two biotechnology companies and holds a medical degree from Johns Hopkins University, he has conducted his hunt not as an expert in
human genomics but as a do - it - yourself biologist, teaching himself the tricks
of the trade as he moves along and doing his research at home.
Now he and his collaborators have carried out an extensive analysis
of human KZFPs, retracing their evolutionary history and identifying their
genomic targets.
EPFL scientists have carried out a
genomic and evolutionary study
of a large and enigmatic family
of human proteins, to demonstrate that it is responsible for harnessing the millions
of transposable elements in the
human genome.
Producing a short list
of strong candidates was in itself a feat, accomplished by applying the right filters to analysis
of human and chimpanzee genomes, said co-author Gregory Wray, professor
of biology and director
of the Duke Center for
Genomic and Computational Biology.
Traditional genetic approaches together with the new wealth
of genomic information for both
human and model organisms open up strategies by which drugs can be profiled for their ability to selectively kill cells in a molecular context that matches those found in tumors.
In the new study, researchers mined databases
of genomic data from
humans and chimpanzees, to find enhancers expressed primarily in the brain tissue and early in development.
«They are developing the clinical
genomics necessary to foster and support the Precision Medicine Initiative
of the National Institutes
of Health, and generating the
genomics data that further drives
human genome research.»
«We feel it's critical that the scientific community consider the potential hazards
of all off - target mutations caused by CRISPR, including single nucleotide mutations and mutations in non-coding regions
of the genome,» says co-author Stephen Tsang, MD, PhD, the Laszlo T. Bito Associate Professor
of Ophthalmology and associate professor
of pathology and cell biology at Columbia University Medical Center, and in Columbia's Institute
of Genomic Medicine and the Institute
of Human Nutrition.
Comparisons
of the Neandertal genome to the genomes
of five present - day
humans from different parts
of the world identify a number
of genomic regions that may have been affected by positive selection in ancestral modern
humans, including genes involved in metabolism and in cognitive and skeletal development.
Since the completion
of the
Human Genome Project in 2003, scientists have expanded their knowledge
of how living cells work with new approaches including
genomics, proteomics, and systems biology.
«The study results elucidate the molecular mechanisms underlying disease progression in multiple sclerosis models, providing a basis for future clinical trials to determine safety and efficacy
of these chemical agents in
humans with demyelinating disorders,» says Patrizia Casaccia, MD, PhD, Professor
of Neuroscience, Genetics and
Genomic Sciences at Mount Sinai and senior author
of the study.
In the last four years, the U.S. - based
Human Microbiome Project used
genomic analysis to identify bacteria, viruses, fungi, archaea, and protozoa in the noses, gums, tonsils, genital tracts, and guts
of 242 healthy Americans between the ages
of 18 and 40; more than 11,000 samples were taken in all.
Researchers at the Sainte - Justine University Hospital Center and University
of Montreal have discovered that the
genomic signature inherited by today's 6 million French Canadians from the first 8,500 French settlers who colonized New France some 400 years ago has gone through an unparalleled change in
human history, in a remarkably short timescale.
Using
genomic analysis to study cancer in dogs can help develop new therapies for
humans with cancer, according to a proof -
of - concept study led by the National Cancer Institute (NCI) and the Translational Genomics Research Institute (TGen).
«The
human part
of it really got a lot
of people overly excited, and that kind
of overshadowed the intent to make it be about writing
genomic sequences in general,» Boeke says.
But now «the approach can be reset using the bacterial and
human genomic data,» says immunologist Steven Schutzer
of the University
of Medicine and Dentistry
of New Jersey.
The first government - funded
human genomics research study performed on African soil — aimed at unlocking the unique genetic character
of southern African populations — has revealed a high level
of genetic diversity.
A
genomic analysis
of ancient
human remains from KwaZulu - Natal revealed that southern Africa has an important role to play in writing the history
of humankind.
The U.S. - based
Human Microbiome Project used
genomic analysis to I.D. microbes in the noses, gums, tonsils, genital tracts and guts
of more than 200 Americans.
Among other initiatives, his group contributes to ENCODE (Encyclopedia
of DNA Elements), supported by NIH to define functional
genomic elements; the DOE Systems Biology Knowledgebase (KBase) for data sharing and analysis; and the internationally funded 1000 Genomes Project on
human genetic variation.
Given 10 years»
of hindsight and the current set
of obstacles, it's no surprise that researchers now state somewhat modest expectations for what
human genomics can deliver and by when.
As part
of the
Human Genome Project, the government required researchers to make their
genomic data and related code available freely.
The move comes in response to the announcement earlier this week
of a new U.S. company, launched by sequencing - machine manufacturer Perkin - Elmer and J. Craig Venter
of The Institute for
Genomic Research, that plans a brute - force approach to sequencing the
human genome within 3 years (ScienceNOW, 12 May).
«With large present - day
genomic datasets and increased international collaboration to handle the many newly sequenced ancient datasets, there is huge potential to understand the biology
of human prehistory in a way that has never been accessible before.»
«Genetic engineering
of human stem cells has not been used for disease - associated
genomic deletions,» said Dr. Papapetrou.
But determining which specific genetic changes led to
humans won't be easy, says Asao Fujiyama,
of RIKEN
Genomic Sciences Center and the National Institute
of Informatics in Japan, one
of the project leaders: «The key proteins are very difficult to iron out because we have so many differences.»
«Right now, the research group is analyzing the nuclear genome the results
of which could provide us with information about its relationship with the Neanderthals and about the existence
of genomic variations associated with the immune system that accounts for the evolutionary success
of Homo sapiens over other
human species with whom it co-existed.
«Think
of the advances being made in
genomics, for example, due to the
human genome project and the free - flowing findings and data.
As anthropologists use all the latest tools —
genomics, computer analysis, and increasingly sophisticated imaging — to extract deep secrets from the latest fossil finds, they are replacing the «ascent
of man» with a captivating new picture
of the
human family.
Yet a third player in the emerging algae fuel market is Synthetic
Genomics, the brainchild
of genomics guru Craig Venter, who beat the U.S. government in sequencing the
human genome and at a fraction
of the cost.
But now that increasingly powerful
genomic technology can definitively identify a species from a fragment
of bone or uncover Neanderthal genes embedded in the DNA
of modern
humans, there is less room for debate.
In the current study, for example, they utilized
genomic information from hundreds
of microbial species commonly found in
humans to create computer models
of nutrient and energy metabolism.