Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human
genetic variations on drug response.
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 consequences of
genetic variation on gene expression are gradually becoming clearer.»
A powerful and broader way to look for an effect of human
genetic variation on the microbiome is to compare twins.
An international team led by researchers at the Broad Institute of MIT and Harvard, the Harvard T.H. Chan School of Public Health and Fred Hutchinson Cancer Research Center uncovered the influence of
genetic variation on vaccine effectiveness after applying cutting - edge DNA sequencing technology to almost 5,000 patient blood samples.
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.
Not exact matches
It also let me know whether I'm carrying certain
genetic variations related to diseases that could be passed
on to kids.
But it has been disappointing in that the kind of
genetic variation it detects has turned out to explain surprisingly little of the
genetic links to most diseases... One issue of debate among researchers is whether, despite the prospect of diminishing returns, to continue with the genomewide studies, which cost many millions of dollars apiece, or switch to a new approach like decoding the entire genomes of individual patients.The unexpected impasse also affects companies that offer personal genomic information and that had assumed they could inform customers of their
genetic risk for common diseases, based
on researchers» discoveries...
The rapid expansion of a previously small population has two important effects
on the distribution of
genetic variation.
Stephen Barr criticizes me for confusing two very different things: the modest scientific theory of neo-Darwinism (which he defines as «the idea that the mainspring of evolution is natural selection acting
on random
genetic variation») and what he calls the «theological» claim that evolution is an «unguided, unplanned» process.
biochemical evidence such as Cytochrome - cyto - C is just one of the thousands of sequences and is not proof of common ancestry, as there are more
variations than similarities in the
genetic code,
on the other hand a study of the amino acid make - up reveals that man is closer to lamprey than are fish.
Moderation of breastfeeding effects
on the IQ by
genetic variation in fatty acid metabolism.
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.
Moffitt researchers focused their attention
on inherited
genetic variations in genes called interleukins.
She will «resurrect» plants from seeds collected across the scarlet monkeyflower's geographic range before and after the 2010 - 2014 study to learn about the impact of strong climatic events
on the
genetic variation of important traits.
Another attention - grabbing submission by prominent geneticists, posted
on 23 July, compares genomic
variation in 22 African populations to suggest an ancient
genetic link between people in southern and eastern Africa1.
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.
Moreover, the prevalence of the
genetic variations varies based
on ancestry.
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.
UNACCEPTABLE
variation exists in the quality of
genetic testing and counselling
on offer across Britain, according to the Genetics Interest Group.
The tests and scans revealed that
variation in the
genetic code of genes known as ARVCF and FADS2 influenced the risk of brain injury
on MRI in the babies.
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.
These were taken from 15 locations across eight African countries, creating the largest data resource
on natural
genetic variation for any species of insect.
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 international team, led by Professor Jacob George and Doctor Mohammed Eslam at the Westmead Institute, had previously identified that the common
genetic variations associated with liver fibrosis were located
on chromosome 19 between the IFNL3 and IFNL4 genes.
Today, 7.6 billion people inhabit Earth, but population geneticists focus
on the effective population size, which is the number of people it took to produce the
genetic variation seen today.
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.
Phylodynamics is the study of
genetic variations in pathogens, and the effect of such
variations on their transmissions.
Instead, the hope is that researchers at Broad and elsewhere will be able to use those data to reveal clusters of
genetic variation, like placing pins
on a map, he says.
Less than a year ago, the big news was triangulating
variation between us and our primate cousins to get a better handle
on genetic changes along the evolutionary tree that led to humans.
A
genetic variation linked to schizophrenia, bipolar disorder and severe depression wreaks havoc
on connections among neurons in the developing brain, a team of researchers reports.
Genome - wide association studies generally rely
on genetic variations called single - nucleotide polymorphisms, or SNPs (pronounced «snips»).
The researchers induced
variations in the degree of demand
on these brain regions — a method of assessing how
genetic risk might impair the brain's ability to respond to attention challenges — by varying task difficulty.
Building
on each subsequent experiment, researchers using Valdar and Lenarcic's methodology could eventually pinpoint which
genetic variations play roles in the side effects of a given drug.
In addition to reporting
on genetic variation in a gene that is active in fast muscle fibers at The Biology of Genomes meeting, MacArthur wrote several
on the spot blog posts covering advances discussed by the participants.
In particular, they focused
on subtle
genetic variations that can be used to differentiate these corals into subpopulations.
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).
In contrast, cis - eQTLs — which account for the majority of
genetic variation that affects gene expression — regulate genes located nearby
on the same chromosome.
To identify new
genetic variations associated with different SLE phenotypes, a total of 598,258 different regions
on the genome (known as single - nucleotide polymorphisms) were genotyped in a population of 482 Caucasian European SLE patients of Spanish origin recruited from the rheumatology departments of 15 Spanish university hospitals belonging to the IMID Consortium (SLE group).
In addition, individual
genetic variation in the overall response to physical exercise likely plays a part in the effects of exercise
on adult neurogenesis but is less studied.
PORTLAND, OREGON — The amount of
genetic variation within a plant species can influence which insects and spiders live
on the plants, a new study finds.
GenProfile focuses
on the systematic analysis of DNA sequence
variation in biomedically relevant genes in order to identify those variants, or combinations of variants (gene profiles), that determine an individual's
genetic risk for disease, predict individually different drug response, and ultimately pave the way to a personalized medicine.
Many of the characteristics that make up a person's face, such as nose size and face width, stem from specific
genetic variations, reports John Shaffer of the University of Pittsburgh in Pennsylvania, and colleagues, in a study published
on Aug. 25 in PLOS Genetics.
To reduce false positives when identifying
genetic variations associated with human disease through genome - wide association studies (GWAS), Dartmouth researchers have identified nine traits that are not dependent
on P values to predict single nucleotide polymorphisms (SNP) reproducibility as reported in Human Genetics
on October 2, 2014.
In addition to identifying a gene that raises risk for colorectal cancer from eating red or processed meat, the study — the first to identify the interactions of genes and diet
on a genome - wide scale — also reveals another specific
genetic variation that appears to modify whether eating more vegetables, fruits and fiber actually lowers your colorectal cancer risk.
With the advent of more and more sophisticated ways to measure
genetic variation and relatedness using molecular markers, such as allozyme polymorphisms and DNA - based markers, not only can individuals be tracked as to their parentage, but changes in allele patterns over time and thus the effects of evolution
on populations can be «seen» in the
genetic information.
The difference between using DNA analysis and isotope tracking is a
variation on the nature versus nurture debate: DNA records an organism's
genetic inheritance, and isotopes reflect the composition of the environment in which it grows.
But how our personal
genetic variations modify the effects of diet
on disease has not yet been thoroughly investigated, said senior author Ulrike Peters, Ph.D., M.P.H, of the Fred Hutchinson Cancer Research Center's Public Health Sciences Division.
A new study focused
on describing
genetic variations within a primary tumor, differences between the primary and a metastatic branch of that tumor, and additional diversity found in tumor DNA in the blood stream could help physicians make better treatment choices for patients with gastric and esophageal adenocarcinoma.