Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects
of human genetic variations on drug response.
A powerful and broader way to look for an effect
of human genetic variation on the microbiome is to compare twins.
Not exact matches
Dr Tomi Pastinen, senior author
on the second study, from McGill University said: «We have created an expansive, high - resolution atlas
of variations that deepens our understanding
of the interplay between the
genetic and epigenetic machinery that drives the three primary cells
of the
human immune system.
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.
The discovery sheds new light
on our understanding
of the
genetic complexity underpinning
variations in
human pigmentation, and could advance our knowledge
of conditions linked to pigmentation, such as skin, testicular, prostate and ovarian cancers.
«Our multi-ethnic exploration
of innate and adaptive immunity highlights a remarkable level
of sharing across
human populations
of genetic variation influencing immune function, while identifying interesting instances
of genetic effects
on immune function that are specific to a population,» said Nir Hacohen, PhD, MGH and the Broad Institute, study author.
Furthermore, the analysis
of data
on single - nucleotide polymorphisms, the main cause
of difference between
human beings, allows the prediction
of phenotypic effects
of a particular
genetic variation.
The map is a key tool that geneticists rely
on to find disease genes and identify the functional
genetic variations at the core
of human diversity.
The start - up's mission is to understand the nature
of human genetic variation and its impact
on human disease (medical genomics) and treatment (pharmacogenomics).
The work
on gorilla and other
human genomes clearly demonstrates that large swathes
of genetic variation can't be understood with the short sequence - read approaches.
Professor Dermitzakis» research focuses
on the
genetic basis
of regulatory
variation and gene expression
variation in the
human genome, the processes that govern non-coding DNA evolution.
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.
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.
The next phase in our scientific understanding
of human health and disease is to decipher the molecular basis
of cell and tissue circuits and the impact
of genetic variations on these circuits.
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.
His research focuses
on the use
of genomic approaches to uncover the functional impact
of human genetic variation, and especially its role in causing severe Mendelian diseases.
Dr. Talkowski directs a genomics research program that explores the consequences
of genetic variation on human disease, particularly
human developmental and neuropsychiatric disorders, as well as the application
of innovations in genomics technology to clinical diagnostics.
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.
His work focusses
on the application
of contemporary genomic technologies to detect
genetic variation and evaluate its role in
human 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)