Results 51 to 60 of about 10,751,278 (348)
The Structure of Haplotype Blocks in the Human Genome
Science, 2002 Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose.
S. Gabriel +17 more
semanticscholar +1 more source
Spectral concepts in genome informational analysis [PDF]
arXiv, 2021 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]
, 2007 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
BMC Genomics, 2018 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
Genome Biology, 2020 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
Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations [PDF]
, 2014 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
Mens Sana Monographs, 2009 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]
Journal of the Royal Society of Medicine, 2005 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
Proceedings of the National Academy of Sciences of the United States of America, 2009 We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs). Reported TASs were common [median risk allele frequency
L. Hindorff +6 more
semanticscholar +1 more source
The Hastings Center Report, 1989 The following pages aim to lay a foundation for understanding the excitement surrounding the ''human genome project,'' as well as to convey a flavor of the ongoing efforts and plans at the Human Genome Center at the Lawrence Berkeley Laboratory. Our own work, of course, is only part of a broad international effort that will dramatically enhance our ...
openaire +8 more sources