Sentences with phrase «including sequencing the human genome»

In the same way that the fly genome paved the way for larger projects, including sequencing the human genome, FlyEM may ultimately contribute to our understanding of the human brain by establishing a fly «connectome» — a map that shows how all neurons in the fly brain are connected to each other.

Not exact matches

Their work has made it increasingly clear that for all the popular attention devoted to genome - sequencing projects, the epigenome is just as critical as DNA to the healthy development of organisms, humans included.

And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmenSequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmensequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

In previous studies, including recent genome sequencing of cancer patients, human SETD2 has been implicated in several cancer types, especially in renal cell carcinoma — the most common kind of kidney cancer.

Ever since the sequencing of the first genomes from eukaryotes — a group that includes yeast and humans — scientists have wondered why most of these creatures» DNA is devoid of genes.

Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures.

The most significant of these was the HiSeq X Ten, a 10 - instrument «factory installation» that enabled the most cost - effective human whole genome sequencing to date: 18,000 genomes per year at a consumables cost of just over $ 1,000 each (note: this does not include the costs of data storage, analysis, or the $ 10 million buy - in).

I will review recent advances in the use of nanopore sequencing for clinical microbiology and human genetics, including our collaborations on viral and bacterial diagnostic sequencing, real - time surveillance, direct RNA and human whole - genome sequencing, and discuss the opportunities and barriers around moving to sequencing as a routine test in the clinic.

An assembly and annotation of the first draft sequence of the entire human genome that includes a comprehensive analysis of repeated DNA sequences.

Major focus areas include human genome interpretation and genetic dissection of novel rare diseases, predictive genomic signatures of response to therapy — especially cancer therapy, and novel sequencing - based assays as biomarkers of disease.

She has made an important contribution to several international research consortia in human genomics, including the Genotype Tissue Expression (GTEx) Project, the 1000 Genomes Project and led the RNA - sequencing work of the Geuvadis Consortium.

Interface of Genomics Research and Genomic Medicine Recent advances in DNA sequencing technologies mean that it is now possible to conduct genomic analyses, including analysis of the entire genome of an individual human, that just a few years ago would have been too costly and slow.

We have a variety of data, both from actual assemblies and simulation studies, which show that about 96 % of the reference human genome is addressable using this library and sequencing strategy, including a significant fraction of the high - copy repeat sequences in the genome.

When the Human Genome Project was launched in 1990, it included the mouse as one of its five central model organisms and targeted the creation of genetic, physical and sequence maps of the mouse gGenome Project was launched in 1990, it included the mouse as one of its five central model organisms and targeted the creation of genetic, physical and sequence maps of the mouse genomegenome.

The data include sequence reads, their mappings to a reference human genome, and variations detected against the reference human genome.

The random BAC fingerprinting technique has rapidly become the method of choice for mapping and sequencing the comparatively large genomes of other eukaryotic organisms, including humans.

Ongoing projects include the sequencing and analysis of > 50,000 deep human genomes — an unprecedented amount of data.

REYKJAVIK, Iceland, 20 September 2017 — In a major study published today, researchers at deCODE genetics use whole - genome data from 14,000 people from across the population of Iceland, including 1500 sets of parents and children, to provide the most detailed portrait to date of how sequence diversity in humans is the result of an evolving interaction between sex, age, mutation type and location in the genome.

The sequencing of the human genome has captured the imagination of people everywhere, including writers and artists.

Several other species, including humans, have had their genomes sequenced previously.

By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants affecting the host invasion receptor genes GYPA and GYPB We find that a nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid genes, which encode a serologically distinct blood group antigen known as Dantu.

The team examined of the remains of 13 human individuals from the north and south of Spain, including genome sequencing of a 7 245 year - old farmer performed by NGI Uppsala at SciLifeLab.

We have developed a map of overlapping fragments that includes 97 percent of the human genome, and we have sequenced 85 percent of this.

Mathematicians are addressing some of our world's most urgent challenges — including tackling climate change, modelling disease transmission and solving the human genome sequence.

The next twelve years of his career he spent in in - house positions of increasing responsibility, at companies to include Merck & Co., Inc., Genetics Institute, Inc. and Wyeth Pharmaceuticals, Inc.Werten completed his in - house career with Celera Genomics (NYSE: CRA), the biotechnology company located in Rockville, Maryland and credited with sequencing the human genome.