Results 11 to 20 of about 10,751,278 (348)
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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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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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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Biomédica: revista del Instituto Nacional de Salud, 2009 Introducción. Aunque la integración del virus linfotrópico humano tipo I no es al azar, se desconocen muchos de los detalles de este proceso. Objetivo. Evaluar las características de la cromatina celular adyacente a secuencias provirales en pacientes con
Mercedes Salcedo-Cifuentes +7 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
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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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
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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RNA-Guided Human Genome Engineering via Cas9
Science, 2013 Genome Editing Clustered regularly interspaced short palindromic repeats (CRISPR) function as part of an adaptive immune system in a range of prokaryotes: Invading phage and plasmid DNA is targeted for cleavage by complementary CRISPR RNAs (crRNAs) bound
P. Mali +7 more
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