An open - source C / C + + library of analytical tools
for human genetic variation data from whole - exome and whole - genome studies.
Not exact matches
In a new study published in The Quarterly Review of Biology, Dr. Karen Hardy and her team bring together archaeological, anthropological,
genetic, physiological and anatomical data to argue that carbohydrate consumption, particularly in the form of starch, was critical
for the accelerated expansion of the
human brain over the last million years, and coevolved both with copy number
variation of the salivary amylase genes and controlled fire use
for cooking.
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.
Adds Visscher: «This is entirely in line with theory and previous inference from SNP [variant] data, yet
for some reason many researchers in
human genetics and epidemiology continue to believe that there is a lot of non-additive
genetic variation for common diseases and quantitative traits.»
Professor Dominic Kwiatkowski, one of the lead authors of the paper, from the Wellcome Trust Sanger Institute and the Wellcome Trust Centre
for Human Genetics, said: «We can now say, unequivocally, that genetic variations in this region of the human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or
Human Genetics, said: «We can now say, unequivocally, that
genetic variations in this region of the
human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or
human genome provide strong protection against severe malaria in real - world settings, making a difference to whether a child lives or dies.
Published September 15 in Genome Biology, the study relied on new software
for researchers that identifies connections between seemingly unrelated
human diseases and traits through the tiny, risk - conferring
genetic variations they have in common.
With the completion of the first phase of the
Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene
variations such as single nucleotide polymorphisms (SNPs),
for the first time scientists have the tools in hand to find the key immune genes and
genetic networks that play roles in vaccine response.
Hünemeier responds that her team looked
for new
genetic variations unique to Neandertals and other ancient
humans and came up empty - handed.
Since scientists first decoded a draft of the
human genome more than 15 years ago, many questions have lingered, two of which have been addressed in a major new study co-led by a Princeton University computer scientist: Is it possible, despite the complexity of billions of bits of
genetic information and their
variations between people, to develop a mechanistic model
for how healthy bodies function?
Co-author Heidi Parker, a geneticist at NHGRI, says that because
humans initially bred dogs
for specific traits — say, smaller body size or calm temperament — selection created a population «bottleneck» that narrowed the
genetic variation in offspring, leaving them with just a few specific clusters of variable
genetic regions.
For those of you who love a tall tale, the list of
genetic variations that determine
human height has just experienced a growth spurt.
Through his role in the UM Center
for Genome Technology, part of the Miller School of Medicine, Dr. Hedges is actively involved in the incorporation of novel genomic technologies into the process of searching
for the
genetic variation underlying
human disease risk.
Researchers are exploring the use of new technologies
for uncovering
genetic variations in
humans and
for closing gaps in the mapping of the
human genome.
A powerful and broader way to look
for an effect of
human genetic variation on the microbiome is to compare twins.
Entire swaths of
human genetic variation, however, remain to be understood and we should push toward the routine de novo assembly of genomes as opposed to simply aligning to a reference
for variant discovery.
If this is true, then there are important implications
for genetic association studies, which often rely on surveys of common
genetic variation in the
human genome.
The challenge
for the years to come is to convert data on new genes, gene defects and
human genome
variation in patients with
genetic cardiovascular disease into functionally relevant information on the diverse pathophysiological mechanisms and clinical manifestations.
The Center
for Research on Genomics and Global Health (CRGGH) aims to facilitate a global understanding of the relationship between
human genetic variation and population differences in disease distribution, with the ultimate goal of informing health inequalities.
The researchers used the very large survey of
human genetic variation called HapMap
for their analysis, which compared
human variations with the chimpanzee genome.
«Large - scale surveys of
human genetic variation have reported signatures of recent explosive population growth, notable
for an excess of rare
genetic variants, suggesting that many mutations arose recently.
Most of that is by design: the 1,000 Genomes Project generated and made available sequence data
for more than 1,000 individuals in an effort to further characterize
human genetic variation.
A
human HapMap, prepared in conjunction with the Human Genome Project, has revealed important linkages between genetic variations and risk for major diseases in ethnically and geographically distinct human populat
human HapMap, prepared in conjunction with the
Human Genome Project, has revealed important linkages between genetic variations and risk for major diseases in ethnically and geographically distinct human populat
Human Genome Project, has revealed important linkages between
genetic variations and risk
for major diseases in ethnically and geographically distinct
human populat
human populations.
South Asian
genetic landscape, bearing in mind its geographic, linguistic, socio - cultural and skin color diversity, offers an excellent model system to decipher the
genetic underpinnings of
human skin color
variation and
for a better understanding of it's evolutionary history.
Working with several of these large, international collaborations, Dr. Peters and her colleagues identified 25 new locations in the
human genome where people could have
genetic variations that put them at increased risk
for colorectal cancer.
His research focuses on understanding the role of
genetic variation in contributing to
human health and disease using mouse models of
human disease, and more recently exploiting technologies developed
for biomedical research
for application in the field of
genetic pest management.
Mice can be used to establish causality
for genetic variations that influence feeding behavior and how those
variations may apply to the
human condition.
For the study, the researchers analyzed the entire
human genome to identify links between
genetic variations and hot flashes and night sweats.
Specification points covered are: Paper 2 Topic 1 (4.5 - homeostasis and response) 4.5.1 - Homeostasis (B5.1 lesson) 4.5.3.2 - Control of blood glucose concentration (B5.1 lesson) 4.5.2.1 - Structure and function (B5.2 lesson) Required practical 7 - plan and carry out an investigation into the effect of a factor on
human reaction time (B5.2 lesson) 4.5.3.1 - Human endocrine system (B5.6 lesson) 4.5.3.4 - Hormones in human reproduction (B5.10 lesson) 4.5.3.5 - Contraception (B5.11 lesson) 4.5.3.6 - The use of hormones to treat infertility (HT only)(B5.12 lesson) 4.5.3.7 - Negative feedback (HT only)(B5.13 lesson) Paper 2 topic 2 (4.6 - Inheritance, variation and evolution) 4.6.1.1 - sexual and asexual reproduction (B6.1 lesson) 4.6.1.2 - Meiosis (B6.1 lesson) 4.6.1.4 - DNA and the genome (B6.3 lesson) 4.6.1.6 - Genetic inheritance (B6.5 lesson) 4.6.1.7 - Inherited disorders (B6.6 lesson) 4.6.1.8 - Sex determination (B6.5 lesson) 4.6.2.1 - Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 - Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.9 le
human reaction time (B5.2 lesson) 4.5.3.1 -
Human endocrine system (B5.6 lesson) 4.5.3.4 - Hormones in human reproduction (B5.10 lesson) 4.5.3.5 - Contraception (B5.11 lesson) 4.5.3.6 - The use of hormones to treat infertility (HT only)(B5.12 lesson) 4.5.3.7 - Negative feedback (HT only)(B5.13 lesson) Paper 2 topic 2 (4.6 - Inheritance, variation and evolution) 4.6.1.1 - sexual and asexual reproduction (B6.1 lesson) 4.6.1.2 - Meiosis (B6.1 lesson) 4.6.1.4 - DNA and the genome (B6.3 lesson) 4.6.1.6 - Genetic inheritance (B6.5 lesson) 4.6.1.7 - Inherited disorders (B6.6 lesson) 4.6.1.8 - Sex determination (B6.5 lesson) 4.6.2.1 - Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 - Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.9 le
Human endocrine system (B5.6 lesson) 4.5.3.4 - Hormones in
human reproduction (B5.10 lesson) 4.5.3.5 - Contraception (B5.11 lesson) 4.5.3.6 - The use of hormones to treat infertility (HT only)(B5.12 lesson) 4.5.3.7 - Negative feedback (HT only)(B5.13 lesson) Paper 2 topic 2 (4.6 - Inheritance, variation and evolution) 4.6.1.1 - sexual and asexual reproduction (B6.1 lesson) 4.6.1.2 - Meiosis (B6.1 lesson) 4.6.1.4 - DNA and the genome (B6.3 lesson) 4.6.1.6 - Genetic inheritance (B6.5 lesson) 4.6.1.7 - Inherited disorders (B6.6 lesson) 4.6.1.8 - Sex determination (B6.5 lesson) 4.6.2.1 - Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 - Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.9 le
human reproduction (B5.10 lesson) 4.5.3.5 - Contraception (B5.11 lesson) 4.5.3.6 - The use of hormones to treat infertility (HT only)(B5.12 lesson) 4.5.3.7 - Negative feedback (HT only)(B5.13 lesson) Paper 2 topic 2 (4.6 - Inheritance,
variation and evolution) 4.6.1.1 - sexual and asexual reproduction (B6.1 lesson) 4.6.1.2 - Meiosis (B6.1 lesson) 4.6.1.4 - DNA and the genome (B6.3 lesson) 4.6.1.6 - Genetic inheritance (B6.5 lesson) 4.6.1.7 - Inherited disorders (B6.6 lesson) 4.6.1.8 - Sex determination (B6.5 lesson) 4.6.2.1 - Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 - Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.
variation and evolution) 4.6.1.1 - sexual and asexual reproduction (B6.1 lesson) 4.6.1.2 - Meiosis (B6.1 lesson) 4.6.1.4 - DNA and the genome (B6.3 lesson) 4.6.1.6 -
Genetic inheritance (B6.5 lesson) 4.6.1.7 - Inherited disorders (B6.6 lesson) 4.6.1.8 - Sex determination (B6.5 lesson) 4.6.2.1 -
Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 - Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.
Variation (B6.9 lesson) 4.6.2.2 - Evolution (B6.10 lesson) 4.6.2.3 - Selective breeding (B6.11 lesson) 4.6.2.4 -
Genetic engineering (B6.11 lesson) 4.6.3.4 - Evidence
for evolution (B6.16 lesson) 4.6.3.5 - Fossils (B6.16 lesson) 4.6.3.6 - Extinction (B6.16 lesson) 4.6.3.7 - Resistant bacteria (B6.17 lesson) 4.6.4.1 - classification of living organisms (B6.18 lesson) Paper 2 topic 3 (4.7 - Ecology 4.7.1.1 - Communities (B7.1 lesson) 4.7.1.2 - Abiotic factors (B7.1 lesson) 4.7.1.3 - Biotic factors (B7.1 lesson) 4.7.1.4 — Adaptations (B7.2 lesson) 4.7.2.1 - Levels of organisation (feeding relationships + predator - prey cycles)(B7.3 lesson) 4.7.2.1 - Levels of organisation (required practical 9 - population sizes)(B7.4 lesson) 4.7.2.2 - How materials are cycled (B7.5 lesson) 4.7.3.1 - Biodiversity (B7.7 lesson) 4.7.3.6 - Maintaining Biodiversity (B7.7 lesson) 4.7.3.2 - Waste management (B7.9 lesson) 4.7.3.3 - Land use (B7.9 lesson) 4.7.3.4 - Deforestation (B7.9 lesson) 4.7.3.5 - Global warming (B7.9 lesson)
Increased understanding about how environmental
variations, such as socio - economic disparities, affect
human brain development and behavior has significant implications
for advancing basic scientific questions such as understanding
genetic versus environmental contributions of brain and behavioral development.