Results 21 to 30 of about 10,877,278 (223)
Nature 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
An Integrated Encyclopedia of DNA Elements in the Human Genome
Nature, 2012 The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor
ENCODEConsortium, Martin Renqiang Min
semanticscholar +1 more source
Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]
, 2019 Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han +25 more
core +2 more sources
BMC 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
CADD: predicting the deleteriousness of variants throughout the human genome
Nucleic Acids Res., 2018 Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders.
Philipp Rentzsch +4 more
semanticscholar +1 more source
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
Sequencing the Human Genome [PDF]
Science, 1986 The title of the report by R. Myerowitz and N. Hogikyan on page 1646 of the issue of 27 June was incorrect. It should have been "Different mutations in Ashkenazi Jews and non-Jewish French Canadians with Tay-Sachs disease."
James Bruce Walsh, Jon Marks
openaire +6 more sources
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
The human genome browser at UCSC.
Genome Research, 2002 As vertebrate genome sequences near completion and research refocuses to their analysis, the issue of effective genome annotation display becomes critical.
W. Kent +6 more
semanticscholar +1 more source
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