Results 11 to 20 of about 2,044,942 (306)

Unified theory of human genome reveals a constrained spatial chromosomal arrangement in interphase nuclei [PDF]

open access: yes, 2015
We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across all pairs of ...
Fatakia, Sarosh N.   +2 more
core   +2 more sources

From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]

open access: yes, 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

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

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

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

Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]

open access: yes, 2013
Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda   +35 more
core   +1 more source

Genetic variants associated with Hermansky-Pudlak syndrome

open access: yesPlatelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth   +5 more
doaj   +1 more source

Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates

open access: yesBMC Evolutionary Biology, 2020
Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris   +3 more
doaj   +1 more source

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