Results 41 to 50 of about 10,987,462 (390)

Latent regulatory potential of human-specific repetitive elements [PDF]

open access: yes, 2013
At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of
Barbosa-Morais, Nuno L.   +15 more
core   +1 more source

The genomics of the human endometrium

open access: yesBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2012
The endometrium is a complex tissue that lines the inside of the endometrial cavity. The gene expression of the different endometrial cell types is regulated by ovarian steroids and paracrine-secreted molecules from neighbouring cells. Due to this regulation, the endometrium goes through cyclic modifications which can be divided simply into the ...
Carlos Simón   +2 more
openaire   +3 more sources

On the sequencing of the human genome [PDF]

open access: yesProceedings of the National Academy of Sciences, 2002
Two recent papers using different approaches reported draft sequences of the human genome. The international Human Genome Project (HGP) used the hierarchical shotgun approach, whereas Celera Genomics adopted the whole-genome shotgun (WGS) approach. Here, we analyze whether the latter paper provides a meaningful test of the WGS approach on a mammalian ...
Waterston, Robert H.   +2 more
openaire   +3 more sources

A map of human genome variation from population-scale sequencing

open access: yesNature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis   +7 more
semanticscholar   +1 more source

Segmental duplications and their variation in a complete human genome

open access: yesbioRxiv, 2021
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13), we
Mitchell R. Vollger   +19 more
semanticscholar   +1 more source

CoRe: a robustly benchmarked R package for identifying core-fitness genes in genome-wide pooled CRISPR-Cas9 screens

open access: yesBMC Genomics, 2021
Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti   +6 more
doaj   +1 more source

Measuring microsatellite conservation in mammalian evolution with a phylogenetic birth-death model. [PDF]

open access: yes, 2012
Microsatellites make up ∼3% of the human genome, and there is increasing evidence that some microsatellites can have important functions and can be conserved by selection.
Buschiazzo, Emmanuel   +4 more
core   +1 more source

Plasmodium malariae and P. ovale genomes provide insights into malaria parasite evolution [PDF]

open access: yes, 2017
Elucidation of the evolutionary history and interrelatedness of Plasmodium species that infect humans has been hampered by a lack of genetic information for three human-infective species: P. malariae and two P. ovale species (P. o. curtisi and P.
Amenga-Etego, Lucas   +21 more
core   +2 more sources

Human genome regulation [PDF]

open access: yesBioengineered, 2016
In the early 90s, Manfred Eigen lectured at Hoffman-La Roche and explained that a gene of 1,000 base pairs has 10605 combinations.
Christian Bach, Prabir Patra
openaire   +3 more sources

GENCODE: The reference human genome annotation for The ENCODE Project

open access: yesGenome Research, 2012
The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.
J. Harrow   +40 more
semanticscholar   +1 more source

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