Sentences with phrase «copy of the human genome»

Not exact matches

Taking advantage of the handful of complete human genome sequences now available, the pair looked at how alleles — the two copies of each gene we inherit from our parents — differ within a genome.

«You could argue that our genome is the most important thing we have, yet we don't know why humans have two copies when a lot of organisms do fine with one, or three, or more,» she says.

Most animals, including humans, have two copies of their genome — the full set of instructions needed to make every cell, tissue, and organ in the body.

Like the human genome, the zebrafish genome has two copies of each gene, and scientists can remove the function of multiple genes to produce phenotypes that are reminiscent of human symptoms.

HIV - 1 integrates its own genome into the genome of human immune system cells known as CD4 + T cells, hijacking their cellular machinery to make more copies of itself.

Iceland's genomes also yielded a bounty of so - called human knockouts — people who carry two nonfunctional copies of one of the roughly 20,000 human genes.

Today, humans have hundreds of copies of the now - extinct retrovirus scattered about their genomes.

The study, conducted in both human and mouse cells, shows that cancer genomes lose copies of repetitive sequences known as ribosomal DNA.

It has deposited so many copies of itself that it accounts for about 18 percent of the human genome.

One hint came in August, when a team led by biochemist Ramin Shiekhattar at the Wistar Institute in Philadelphia reported that a protein complex responsible for lashing the two copies of each chromosome together just before cell division binds to a repetitive element in the human genome.

Indeed, looking at genomes of humans and chimpanzees that had already been sequenced, the researchers found that the primates had more copies of L1 sequences than did humans.

About half of the 31 copies came from the girl's mother and half from her father, producing a genome «of equivalent quality to a recent human genome,» says paleoanthropologist John Hawks of the University of Wisconsin, Madison, who was not part of the team.

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 study for the first time estimates the minimum number of locations in the human genome — 250 to 300 — where gene copy number variation (CNV) can give rise to autism spectrum disorder (ASD).

Each copy of this ladder holds the human genome.

The development of high - throughput screening methods such as array - based comparative genome hybridization (array CGH) allows screening of the human genome for copy - number changes.

We report here a significant improvement in the resolution of array CGH, with the development of an array platform that utilizes single - stranded DNA array elements to accurately measure copy - number changes of individual exons in the human genome.

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.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

He is best known for his discovery that copy - number variation — a state in which cells have an abnormal number of DNA sections, sometimes associated with susceptibility or resistance to disease — is widespread and significant in the human genome.

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.

One sequence, called Alu, has copied itself a million times and makes up some 10 percent of the human genome.