Results 11 to 20 of about 2,011,170 (298)

Genomics of human longevity [PDF]

open access: yesPhilosophical Transactions of the Royal Society B: Biological Sciences, 2011
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences on human longevity are expected to be much more complex.
Slagboom, P.E.   +13 more
openaire   +8 more sources

The Sequence of the Human Genome [PDF]

open access: yesScience, 2001
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of ...
Venter, J. Craig   +204 more
openaire   +6 more sources

Expressing the human genome [PDF]

open access: yesNature, 2001
We have searched the human genome for genes encoding new proteins that may be involved in three nuclear gene expression processes: transcription, pre-messenger RNA splicing and polyadenylation. A plethora of potential new factors are implicated by sequence in nuclear gene expression, revealing a substantial but selective increase in complexity compared
TUPLER, Rossella   +2 more
openaire   +2 more sources

The Human Genome [PDF]

open access: yesBriefings in Bioinformatics, 2002
The total genetic complement of our species is called “human genome”. It comprises a set of different DNA molecules, corresponding to 25 different types of chromosomes (22 autosomes, X chromosome, Y chromosome, mitochondrial DNA) which are present within our cells.
A. Rosenthal, L. Vakalopoulou
  +9 more sources

Genomics and human diversity [PDF]

open access: yesCahiers 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

Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]

open access: yes, 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

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

open access: yesNature Communications, 2021
PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are ...
Stephen Watt   +26 more
doaj   +1 more source

Functional analysis and transcriptional output of the Göttingen minipig genome [PDF]

open access: yes, 2015
In the past decade the Göttingen minipig has gained increasing recognition as animal model in pharmaceutical and safety research because it recapitulates many aspects of human physiology and metabolism.
Badi, Laura   +21 more
core   +9 more sources

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

open access: yesBMC Genomics, 2017
Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing.
Oliver A. Hampton   +10 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

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