Is it appropriate to stop at observable traits, such as leaf size, or to dig into
individual gene sequences?
Those few studies that have systematically compared
individual gene sequences have shown that genes and the human genome may be much more variable than previously thought.
Not exact matches
The ability to locate the
individual gene or
gene sequence responsible for each disease could revolutionize biomedicine in the 21st century.
Then, using the CRISPR - Cas
gene - editing tool, they spliced
sequences corresponding to
individual video pixels into the genome.
When researchers
sequenced the sponge's genome in 2010, they found
genes that help
individual cells cooperate as a group: how to divide, send signals to one another, and distinguish between friends and outsiders.
Brains of
individuals who died with Huntington's, Parkinson's or no neurological condition were analyzed using
sequencing technology that provides a data readout of the activity of all
genes in the genome.
«For example, among
individuals carrying the SNP
sequence «TGT» at all three locations on both copies of the
gene, 62 percent were blue - eyed,» says Sturm's colleague David Duffy.
In this standard view, the genetic differences between any two
individuals are due to slight differences in the
sequence of their
genes that mean that the
genes «spell out» slightly different proteins.
Using a technique known as single - cell RNA
sequencing, the team explored more than 65,000
individual cells that exist under normal or inflammatory conditions, looking for
genes that were more active in one state or subpopulation versus another.
To confirm and strengthen the findings, Zwick and his team are currently performing an independent study of
individuals with Down syndrome, using whole genome
sequencing to further delineate alterations in
genes that perturb heart development in children.
When they
sequenced the complete genomes of the Y. pestis DNA in those seven
individuals, the team found that the bacterial genomes from the earliest samples lacked two
genes that helped Y. pestis evade the immune systems of humans and fleas during the Black Death.
IN THE DECADE since researchers first
sequenced the human genome, obvious links between the
genes and
individual diseases have been slow to appear [see «Revolution Postponed,» by Stephen S. Hall; Scientific American, October].
By characterising the DNA
sequence of these
individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and
genes underpinning disease risk.
Technologies such as RNA
sequencing are revealing which
genes are expressed in each
individual cell.
Additionally, they
sequenced 68 HLHS patient samples and found one
individual with rare mutations in both SAP130 and PCDHA
genes.
After the sorting, we performed whole genome amplification on
individual aggregates then
sequenced the 16S rRNA marker
genes to identify cells comprising the aggregate.
Significant differences were also discovered between the centenarians and the two control groups when their genotype frequencies were compared, in other words, the proportion of
individuals with a specific
gene sequence.
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.
To pin down the
gene's origins, the researchers
sequenced some 250
individuals, half from Africa, the rest from China, Central Asia, the Basque Country of southwestern Europe, and the Pacific Islands.
They used high - throughput
gene sequencing to identify
individual microbiomes in each of nearly 700 samples of must and wine, collected in 2011 from eight stages of the fermentation process.
Reference materials are critical to properly evaluate the next - generation of
gene sequencing and genetic testing methods that will increase the reliability and effectiveness of precision medicine (also known as «personalized medicine»), in which a person's genetic profile is used to create treatments and therapies unique to that
individual.
Future additions to the RM collection may include whole genomes from persons with Hispanic, African and mixed ancestries, as well as a set containing
sequenced genes of both malignant tumor and normal cells from the same
individual.
Traditional genetic methods, such as looking at family trees and
sequencing individual genes, have linked defects in 80
genes on the X chromosome to XLMR, but the discovery rate has slowed, suggesting that those techniques have reached their limit.
They then amplified and
sequenced two nuclear and three mitochondrial
genes from each tissue, amounting to nearly 5,000 base pairs of DNA, from over 120
individuals.
Soon after researchers began to
sequence individual genomes 5 years ago, they realized that everyone's DNA seems to have major mutations that disable the protein for which the
gene codes.
Therefore, to establish the relative frequency of neutralizing clones within the VHH repertoire,
individual sequences were aligned to both the known neutralizing VHH
sequences and their most likely germ line V
gene sequences and the percentage identity to the neutralizing VHH plotted (Fig. 5C, D).
To generate whole - genome and
individual gene nucleotide phylogeny trees, all 95 fully
sequenced unique adenovirus genomes were first downloaded from GenBank.
The case highlights concerns that a network of
individual gene patents could threaten the future of personalized medicine and whole - genome
sequencing by blocking companies and clinicians from reporting a patient's genetic risk factors for different diseases.
In the case of Knut, the team screened
gene sequences from plausible causative pathogens from tens of millions of
individual DNA
sequences.
Each point represents one
individual donor and is averaged from 25 — 75
sequences, except for the primary response to anthrax from which only 10 VH
genes could be cloned from single cells because of the highly limited response.
Other medical
sequencing projects will use DNA
sequencing to: discover new
genes that are involved in common diseases; identify the
genes responsible for dozens of relatively rare, single -
gene (autosomal Mendelian) diseases;
sequence all of the
genes on the X chromosome from affected
individuals to identify those involved in sex - linked diseases; and survey the range of variants in
genes known to contribute to certain common diseases.
An
individual's
gene sequence is determined at conception, but the external environment and an
individual's lifestyle can change the epigenetic
sequence throughout a lifetime, continually altering how
genes are expressed.
The y - axis shows the percentage of
sequences within each subset with identical residues to each VHH at each
individual CDR3 position (and the preceeding three V
gene residues − 1, − 2, − 3 = CAT / CNA) indicated on the x-axis.
Sequencing improvements can also be applied to pre-natal genetic testing and personalized therapeutics — for example scanning your
genes to improve treatment outcomes based on your
individual mutations.
However, urine (as a reflection of the bladder microbiota) from healthy
individuals does contain extensive numbers of bacteria, which are not routinely cultivated by clinical microbiology laboratories, but can be identified by 16S rRNA
gene sequencing (Nelson et al., 2010; Siddiqui et al., 2011; Wolfe et al., 2012).
Our guest published a historic paper less than one month ago (available here), describing the first comprehensive study of an
individual, combining genomic (genome
sequence), transcriptomic (
genes turned on / off), proteomic (the total complement of proteins - or protein profiles), metabolomic (complete metabolic analysis), and autoantibody profiles.
In a high - profile examination of a
sequenced genome (publicly available), the
individual was homozygous for likely - pathogenic variants in two disease
genes.
Remember that a
gene is a set of instructions, spelled using the chemical «letters» A, C, G and T. Each
gene has a different
sequence of letters, and cells use zinc - containing proteins to help control
individual genes based on their specific
sequence of letters.
The exact composition of germline V
gene sequences in an
individual has been difficult to determine due to -LSB-...]
Professor Segal's research has two major directions 1)
Gene regulation — using quantitative and computational models to understand how DNA
sequence variation among human
individuals generates phenotypic diversity 2) Microbiome and Nutrition — understanding how the microbial composition of
individuals affect their physiology and health.
After looking at 9 million genetic variants in those who were asparagus anosmic, they linked this deficiency to 871
individual sequence variations they discovered in chromosome 1, on
genes associated with our sense of smell.
First, the researchers analyze
sequence data from an
individual's tumor and identify four to 10
genes altered in the cells.
Epigenetics is the study of how
genes can be switched on and off by factors in the environment or other external factors rather than an
individual's DNA
sequence.
deCODE has identified key variations in the
sequence of the genome conferring increased risk of major public health challenges from cardiovascular disease to cancer, and employs its
gene discovery engine to develop DNA - based tests to assess
individual risk of common diseases; to license its tests and intellectual property to partners; and to provide comprehensive, leading - edge contract services to companies and research institutions around the globe.
Scott D. Collins, Ph.D., University of Maine, Orono $ 850,000 (2 years) «High - speed Nanopore
Gene Sequencing» Skilled in silicon fabrication methods, this group will try to fabricate a nanopore with tiny electrodes and built - in circuits that will be used in experiments that attempt to measure differences in the electron tunneling of
individual nucleotides in DNA molecules.
The exact composition of germline V
gene sequences in an
individual has been difficult to determine due to the highly repetitive nature of the genomic
sequences encoding these segments, thus limiting our understanding of humoral immune responses.
In these studies,
sequence data from several thousands of
individuals is compared to find disease - associated
genes where cases have a higher load of genetic variants that are likely to disturb
gene function, compared to the controls.
Sequencing of the mouse genome coupled with the successful development of transgenic and knockout mouse lines allows researchers to investigate the roles that
individual genes play within specific mechanisms of renal physiology under both normal and pathologic conditions (14).
At least 10 constructs of each
individual HCC sample were
sequenced and mutations appearing in more than five constructs were considered as somatic mutations of the p53
gene, not PCR - induced errors.
The resulting datasets of regulatory genomic
sequence will provide a valuable resource in determining how non-coding DNA
sequence variation may impact an
individual's capacity to drive appropriate
gene expression.