Not exact matches
Although researchers do not yet know the biological significance of these discoveries, they say that fully cataloguing the genome may help them understand
how genetic variations affect the risk of contracting diseases such as cancer as well as
how humans grow from a single - celled embryo into an adult.
An international consortium of researchers in the Genotype - Tissue Expression (GTEx) Consortium published findings about
how genetic variation effects gene regulation in 44
human tissue types.
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?
Several lines of evidence suggest that a person's facial shape is controlled by one's genes, but scientists don't yet understand
how genetic variation contributes to the range of healthy shapes and sizes that
human faces take.
Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's d
Genetic studies in
humans, zebrafish and mice have revealed
how two different types of
genetic variations team up to cause a rare condition called Hirschsprung's d
genetic variations team up to cause a rare condition called Hirschsprung's disease.
I was working in a community of people who were all thinking about looking at
genetic variations, of
how you might look at them and
how you might understand them, and so reading lots of papers from other folks who were doing great work in that area I just looked at ways that you could basically go across the
human genome and look at every
variation, everything that's variable between
human populations.
«This is a dramatic example of
how recent
human history has profoundly shaped patterns of
genetic variation,» said Joshua Akey,...
We show
how the HapMap resource can guide the design and analysis of
genetic association studies, shed light on structural
variation and recombination, and identify loci that may have been subject to natural selection during
human evolution.
In a paper published in Nature in September 2013, we describe results of the largest study to date integrating RNA and genome sequencing data from multiple
human populations, and provide a comprehensive map of
how genetic variation affects the transcriptome.
He's interested in understanding
how non-coding
genetic variation contributes to
human traits by integrating the genome and transcriptome.
Mice can be used to establish causality for
genetic variations that influence feeding behavior and
how those
variations may apply to the
human condition.
I think that few people appreciate the scale of the 1,000 Genomes Project and just
how much information it's already yielding about
human genetic variation.
«GTEx will begin to provide researchers with a comprehensive view of
genetic variation and a more precise understanding of
how it affects genes critical to the normal function of tissues and organs,» said NIH Director Francis S. Collins, M.D., Ph.D. «This resource will add a new dimension to our understanding of
human biology and the mechanisms that lead to disease.»
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.