Results 21 to 30 of about 10,987,462 (390)
BMC Bioinformatics, 2021 Background The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging.
Jeffrey N. Dudley +9 more
doaj +1 more source
npj Regenerative Medicine, 2021 Throughout their lifetime, fish maintain a high capacity for regenerating complex tissues after injury. We utilized a larval tail regeneration assay in the zebrafish Danio rerio, which serves as an ideal model of appendage regeneration due to its easy ...
Jason W. Sinclair +11 more
doaj +1 more source
Transposable element insertions have strongly affected human evolution [PDF]
, 2010 Comparison of a full collection of the transposable element (TE) sequences of vertebrates with genome sequences shows that the human genome makes 655 perfect full-length matches.
Britten, Roy J.
core +2 more sources
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
Genome Biology, 2009 Bowtie is an ultrafast, memory-efficient alignment program for aligning short DNA sequence reads to large genomes. For the human genome, Burrows-Wheeler indexing allows Bowtie to align more than 25 million reads per CPU hour with a memory footprint of ...
Ben Langmead +3 more
semanticscholar +1 more source
Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]
, 2019 Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han +25 more
core +2 more sources
An Integrated Encyclopedia of DNA Elements in the Human Genome
Nature, 2012 The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor
ENCODEConsortium, Martin Renqiang Min
semanticscholar +1 more source
From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]
, 2009 As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core +1 more source
Genomics and human diversity [PDF]
Cahiers de l’Urmis, 2021 The sequencing of the human genome (2003) has been followed by a number of technical developments that allow detailed characterization (including complete sequencing) of the DNA of thousands of individuals. This has provided an estimate of human genetic diversity: approx. 3 million base substitutions within our genome that includes 3,000 million bases.
openaire +2 more sources
Phenotypic variance explained by local ancestry in admixed African Americans
Frontiers in Genetics, 2015 We surveyed 26 quantitative traits and disease outcomes to understand the proportion of phenotypic variance explained by local ancestry in admixed African Americans. After inferring local ancestry as the number of African-ancestry chromosomes at hundreds
Daniel eShriner +6 more
doaj +1 more source
Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]
, 2015 Plasmodium knowlesi is a newly described zoonosis that causes malaria in the human population that can be severe and fatal. The study of P. knowlesi parasites from human clinical isolates is relatively new and, in order to obtain maximum information from
A Conesa +58 more
core +4 more sources