Results 51 to 60 of about 10,781,581 (397)
Changes in Human Genomics [PDF]
I would like to welcome you to the second issue of Volume 5 and also to announce several changes to the Journal including new members of our Editorial Board, the introduction of a new section 'Research Highlights' and, crucially, the introduction of open-access papers.
openaire +3 more sources
Spectral concepts in genome informational analysis [PDF]
The concept of k-spectrum for genomes is here investigated as a basic tool to analyze genomes. Related spectral notions based on k-mers are introduced with some related mathematical properties which are relevant for informational analysis of genomes.
arxiv
Adaptive Evolution of Conserved Noncoding Elements in Mammals [PDF]
Conserved noncoding elements (CNCs) are an abundant feature of vertebrate genomes. Some CNCs have been shown to act as cis-regulatory modules, but the function of most CNCs remains unclear.
Emmanouil T Dermitzakis+5 more
core +3 more sources
The zebrafish reference genome sequence and its relationship to the human genome
Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of ...
K. Howe+176 more
semanticscholar +1 more source
Background Bisulfite sequencing is widely employed to study the role of DNA methylation in disease; however, the data suffer from biases due to coverage depth variability.
Luli S. Zou+8 more
doaj +1 more source
Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies
Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations.
Arang Rhie+3 more
doaj +1 more source
GENDER ISSUES ARISE IN RELATION TO THE HUMAN GENOME ACROSS A NUMBER OF DIMENSIONS: the level of attention given to the nuclear genome as opposed to the mitochondrial; the level of basic scientific research; decision-making in the clinic related to both reproductive decision-making on the one hand, and diagnostic and predictive testing on the other; and
openaire +5 more sources
The Human Genome Project [PDF]
On 14 April 2003 the US Human Genome Research Institute announced that scientists had just clipped into place the very last piece in the colossal jigsaw of human DNA. The next day's newspapers reminded us that, whilst it was early days yet, a host of diseases from eczema to dementia could one day be history.
openaire +3 more sources
Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations [PDF]
The HEK293 human cell lineage is widely used in cell biology and biotechnology. Here we use whole-genome resequencing of six 293 cell lines to study the dynamics of this aneuploid genome in response to the manipulations used to generate common 293 cell ...
Boone, Morgane+15 more
core +3 more sources
A haplotype map of the human genome.
Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate
M. Olivier
semanticscholar +2 more sources