Sentences with phrase «sequencing genes responsible»

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The ability to locate the individual gene or gene sequence responsible for each disease could revolutionize biomedicine in the 21st century.

Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.

Using a novel combination of technologies, including trio exome sequencing of patient / parental DNA and genetic studies in the tiny larvae of zebrafish, the EuroEPINOMICS RES consortium found that mutations in the gene CHD2 are responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome — a severe form of childhood epilepsy that is in many patients resistant to currently available anti-epileptic drugs.

By comparing proteomic and RNA - sequencing data from people on different exercise programs, the researchers found evidence that exercise encourages the cell to make more RNA copies of genes coding for mitochondrial proteins and proteins responsible for muscle growth.

Medical researchers have used DNA sequencing to identify a gene variant responsible for causing lupus in a young patient.

The researchers carried out fine - scale mapping, looking for parts of the DNA sequence that were specifically different in butterflies with different patterns, in three different Heliconius species, and in each case the cortex gene was found to be responsible for this adaptation in their patterning.

Since the successful sequencing of the human genome, interest in the group of genes encoding proteins responsible for DNA remodeling has grown exponentially.

To identify genetic changes likely to be responsible for the giraffe's unique characteristics, including sprints that can reach 37 miles per hour (60 km / h), Cavener and Agaba compared the gene - coding sequences of the giraffe and the okapi to more than forty other mammals including the cow, sheep, goat, camel, and human.

She said: «Identifying a fault in Complex I, one of the building blocks of mitochondria which is responsible for causing disease combined with our custom gene capture and the latest sequencing technology means we can screen many more genes to diagnose this debilitating disease.

They will count and culture any microbes still living in the fractures, and sequence DNA to look for the genes responsible for metabolic pathways.

In the last four years scientists have cloned and sequenced many genes carrying defects that cause disease, including those responsible for Fragile X linked mental retardation, different forms of muscular dystrophy, and most recently Huntington's disease.

As more such species are sequenced, he says, «everyone will be using these» genomes to find out which genes are responsible for particular functions, especially for plant pathogens such as Fusarium, which causes ear rot in corn and puts out mycotoxins in animal feed.

Bradley, Edwards, Shapiro, and their colleagues sequenced part of a gene from the samples» mitochondria, cellular components responsible for generating a cell's energy.

With the complete sequence of the maize genome now available, positional cloning can be used to identify genes responsible for traits caused by mutations as well as by natural genetic variation.

But now geneticists at the University of Geneva (UNIGE), Switzerland, sequenced the DNA of these skin tumors, in order to determine the genes that are responsible for the cancerogenesis.

«We suggest to sequence the healthy DNA and that of the tumor of each patient to really know which genes are responsible for the development of cancer,» explains Nikolaev.

Thus µSCALE empties the contents of a single capillary onto a collector plate, where the DNA of the isolated cell can be sequenced and the gene variant responsible for the protein of interest can be identified.

Researchers have sequenced the genomes of all 15 species of Darwin's finches, revealing a key gene responsible for the diversity in the birds» beaks.

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.

The genomes of all 15 of these finch species have been sequenced, pinpointing a gene responsible for the famous beak variations

Finding the genes responsible for the increased risk is not straightforward because small sequences of DNA can interact with completely different parts of the genome through a strange phenomenon known as «DNA looping».

All gene sequencing that is done within the project will be performed at SciLifeLab and Anders Andersson's group will be responsible for the bioinformatics within the project.

Within RD - Connect's sister project Neuromics, Hanns was the disease coordinator for the congenital myasthenic syndromes, and in this and several other exome sequencing projects was responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.

Dr. Pollard's group aims to pinpoint specific DNA alterations in these sequences that are responsible for changes in gene expression.

When Parker and colleagues at the National Human Genome Research Institute in Bethesda, MD, went looking for gene responsible for little legs across all these breeds, they expected to find a «point mutation,» a small change in the DNA sequence.

Personalized Genome Sequencing Reveals Coding Error Johns Hopkins Kimmel Cancer Center scientists used «personalized genome» sequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating thSequencing Reveals Coding Error Johns Hopkins Kimmel Cancer Center scientists used «personalized genome» sequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating thsequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating the disease.

«In the old days, two or three years ago, we would find an interesting Arabidopsis mutant in the lab, and then there was the year - long haul to find the gene responsible for those physical characteristics,» says Steve Rounsley, formerly of TIGR, where Arabidopsis chromosome 2 was sequenced.

However, the DNA sequence for the gene responsible for eye colour was proven to remain the same for white - eyed parents and red - eyed offspring.

With the canine genome now fully mapped and sequenced, the stage is set for mapping and isolating the genes responsible for many genetic disorders.

Scientists used gene chips containing feline single nucleotide polymorphisms (SNPs)-- variations from the common feline DNA sequence that can help track down genes responsible for genetic diseases — to conduct their investigations.