Sentences with phrase «human reference sequence»

Careful manual annotation of the human reference sequence provides a solid basis for the identification of disease - associated genes.

Incompatibility between the two software packages used caused some variants that the Ethiopian man shared with Europeans (whose DNA forms a large chunk of the human reference sequence) to be removed from the analysis.

Not exact matches

Using SHIMS, the lab greatly improved the human X reference sequence, accurately assembling three large amplicons, identifying previously unknown palindromes, and ultimately shortening the entire length of the sequence by eliminating four major gaps.

The millions of base pairs of sequence that Genovese and McCarroll's team have located will be added to the next release of the reference human genome assembly — the «Google maps» of the human genome that geneticists use every day — providing a more comprehensive view of the genome and how the pieces all fit together.

These important updates will now be incorporated into the reference sequence of the human X for use by the greater scientific community.

However, to render such a comparison valid, the lab had to upgrade the human X reference sequence, which was originally assembled as a mosaic of sequences from the X chromosomes of at least 16 people.

Hidden in the tangled, repetitious folds of DNA structures called centromeres, researchers from Harvard Medical School and the Broad Institute have discovered the hiding place of 20 million base pairs of genetic sequence, finding a home for 10 percent of the DNA that is thought to be missing from the standard reference map of the human genome.

«Humans vary in their DNA sequences, and what is taken as the «normal» DNA sequence for reference can not account for all these differences,» says Stuart Orkin, MD, of Dana - Farber Boston Children's Cancer and Blood Disorders Center and co-corresponding author on the study with Matthew Canver, an MD - PhD student at Harvard Medical School.

The team took samples from Ata's bone marrow and sequenced the DNA, mapping it against a human reference genome.

Yet, «these studies using HeLa cells had to rely on information from the «reference» sequence produced by the Human Genome Project, even though there was evidence that the genomes of HeLa cell lines were probably quite different,» said Lars Steinmetz, Ph.D., who led the G3 study.

Using the new approach in the hydatidiform genome, the researchers were able to identify and sequence 26,079 segments that were different from a standard human reference genome used in genome research.

For instance, the Human Microbiome Project (HMP)(Turnbaugh et al, 2007; Peterson et al, 2009; Huttenhower et al, 2012) and MetaHIT (Qin et al, 2010) have generated maps of bacterial species abundances throughout the human body, reference genomes, and catalogs of more than 100 million microbial genes assembled from shotgun sequencing of in vivo communiHuman Microbiome Project (HMP)(Turnbaugh et al, 2007; Peterson et al, 2009; Huttenhower et al, 2012) and MetaHIT (Qin et al, 2010) have generated maps of bacterial species abundances throughout the human body, reference genomes, and catalogs of more than 100 million microbial genes assembled from shotgun sequencing of in vivo communihuman body, reference genomes, and catalogs of more than 100 million microbial genes assembled from shotgun sequencing of in vivo communities.

For the Standard Sequencing Service, all of these variation types are identified in comparison to the human genome reference.

While these variants are all determined in comparison to the human genome reference, genomes submitted for the Cancer Sequencing Service are additionally analyzed for somatic variants called in comparison to the baseline genome within the submitted pair or trio.

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.

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

Diversity in non-repetitive human sequences not found in the reference genome Kehr B et al..

Merged sequences were mapped to a human reference mitogenome (GenBank accession EU256375.1) using the BWA - backtrack algorithm in the Burrows — Wheeler Aligner, version 0.7.5 (ref.

We have sequenced the CEPH1463 (NA12878 / GM12878, Ceph / Utah pedigree) human genome reference standard on the Oxford Nanopore MinION using 1D ligation kits (450 bp / s) using R9.4 chemistry (FLO - MIN106).

«The historic effort to produce a reference sequence of the human genome was successfully completed in April 2003.

We report the sequencing and assembly of a reference genome for the human GM12878 Utah / Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer.

Sequences were aligned to the human reference genome (NCBI build 37 / HG19).

This summer, the centers also began initial sequence production for creating a reference version of the genome of the rhesus macaque, which is a monkey that is widely used in studies of human immunodeficiency virus (HIV) infection.

The distance between Mezmaiskaya and a particular modern human sequence known as the reference sequence (Anderson et al. 1981) was 22, compared to 27 for the first Neandertal.

Note that (in reference to Krings et al. 2007) because two modern human sequences are 24 bases apart, while the smallest Neandertal / human difference is only 22, this does not mean that the Neandertal sequence is within the range of modern humans.

NCBI provides Gene, Online Mendelian Inheritance in Man, the Molecular Modeling Database (3D protein structures), dbSNP (a database of single - nucleotide polymorphisms), the Reference Sequence Collection, a map of the human genome, and a taxonomy browser, and coordinates with the National Cancer Institute to provide the Cancer Genome Anatomy Project.

Portrait of a German Officer [fig. 1][fig. 1] Marsden Hartley, Portrait of a German Officer, 1914, oil on canvas, The Metropolitan Museum of Art, New York, Alfred Stieglitz Collection, 1949, acknowledged to be the first painting in the sequence, incorporates explicit references to Freyburg — his initials (K.v.F.), his age when he died (24), and his regiment number (4)-- into a composition of interlocking elements evocative of a human torso against a black background.