Results 11 to 20 of about 10,781,581 (397)
The effects of common structural variants on 3D chromatin structure
BMC Genomics, 2020 Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs).
Omar Shanta +3 more
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Briefings 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
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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
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Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
Genome Biology, 2009 Bowtie is an ultrafast, memory-efficient alignment program for aligning short DNA sequence reads to large genomes. For the human genome, Burrows-Wheeler indexing allows Bowtie to align more than 25 million reads per CPU hour with a memory footprint of ...
Ben Langmead +3 more
semanticscholar +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
Phenotypic variance explained by local ancestry in admixed African Americans
Frontiers in Genetics, 2015 We surveyed 26 quantitative traits and disease outcomes to understand the proportion of phenotypic variance explained by local ancestry in admixed African Americans. After inferring local ancestry as the number of African-ancestry chromosomes at hundreds
Daniel eShriner +6 more
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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
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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
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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
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Genomics and human diversity [PDF]
Cahiers 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