Results 21 to 30 of about 1,962,192 (329)
On the sequencing of the human genome [PDF]
Proceedings 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
Genetic variants associated with Hermansky-Pudlak syndrome
Platelets, 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
BMC 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
Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates
BMC 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
The genomics of the human endometrium
Biochimica 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
Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]
, 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
Bioengineered, 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
Functional analysis and transcriptional output of the Göttingen minipig genome [PDF]
, 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
Improving single-cell cloning workflow for gene editing in human pluripotent stem cells [PDF]
, 2018 The availability of human pluripotent stem cells (hPSCs) and progress in genome engineering technology have altered the way we approach scientific research and drug development screens.
Chen, Yi-Hsien, Pruett-Miller, Shondra M
core +2 more sources
The Epstein-Barr Virus Episome Maneuvers between Nuclear Chromatin Compartments during Reactivation. [PDF]
, 2018 The human genome is structurally organized in three-dimensional space to facilitate functional partitioning of transcription. We learned that the latent episome of the human Epstein-Barr virus (EBV) preferentially associates with gene-poor chromosomes ...
Fernandez, Samantha G +7 more
core +1 more source