Search Results - "Arbiza, Leonardo"
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Contrasting X-Linked and Autosomal Diversity across 14 Human Populations
Published in American journal of human genetics (05-06-2014)“…Contrasting the genetic diversity of the human X chromosome (X) and autosomes has facilitated understanding historical differences between males and females…”
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2
Inference of natural selection from interspersed genomic elements based on polymorphism and divergence
Published in Molecular biology and evolution (01-05-2013)“…Complete genome sequences contain valuable information about natural selection, but this information is difficult to access for short, widely scattered…”
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3
NRE: a tool for exploring neutral loci in the human genome
Published in BMC bioinformatics (14-11-2012)“…Analyzing regions of the genome where genetic variation is free from the confounding effects of natural selection is essential for many population genetic…”
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4
Indigenous Arabs are descendants of the earliest split from ancient Eurasian populations
Published in Genome research (01-02-2016)“…An open question in the history of human migration is the identity of the earliest Eurasian populations that have left contemporary descendants. The Arabian…”
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5
Positive selection, relaxation, and acceleration in the evolution of the human and chimp genome
Published in PLoS computational biology (01-04-2006)“…For years evolutionary biologists have been interested in searching for the genetic bases underlying humanness. Recent efforts at a large or a complete genomic…”
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From genes to functional classes in the study of biological systems
Published in BMC bioinformatics (03-04-2007)“…With the popularization of high-throughput techniques, the need for procedures that help in the biological interpretation of results has increased enormously…”
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7
P472: Highly scalable pharmacogenomic panel testing with hybrid capture and long-read sequencing
Published in Genetics in Medicine Open (2023)Get full text
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8
Sexual selection drives weak positive selection in protamine genes and high promoter divergence, enhancing sperm competitiveness
Published in Proceedings of the Royal Society. B, Biological sciences (07-07-2009)“…Phenotypic adaptations may be the result of changes in gene structure or gene regulation, but little is known about the evolution of gene expression. In…”
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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions
Published in PloS one (25-03-2015)“…Whole genome analysis in large samples from a single population is needed to provide adequate power to assess relative strengths of natural selection across…”
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10
Natural selection on functional modules, a genome-wide analysis
Published in PLoS computational biology (01-03-2011)“…Classically, the functional consequences of natural selection over genomes have been analyzed as the compound effects of individual genes. The current paradigm…”
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11
Evolutionary Genomics of Genes Involved in Olfactory Behavior in the Drosophila melanogaster Species Group
Published in Evolutionary Bioinformatics (01-01-2012)“…Previous comparative genomic studies of genes involved in olfactory behavior in Drosophila focused only on particular gene families such as odorant receptor…”
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12
Cis -regulatory elements and human evolution
Published in Current opinion in genetics & development (01-12-2014)“…Modification of gene regulation has long been considered an important force in human evolution, particularly through changes to cis -regulatory elements (CREs)…”
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Genome-wide inference of natural selection on human transcription factor binding sites
Published in Nature genetics (01-07-2013)“…Adam Siepel and colleagues find that natural selection has exerted a significant influence on transcription factor binding sites in the human lineage using a…”
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14
Abstract 2098: Twist Fast Hybridization targeted methylation sequencing: a tunable target enrichment solution for methylation detection
Published in Cancer research (Chicago, Ill.) (01-07-2021)“…DNA methylation is a genetic occurrence that plays a principal role in the epigenetic regulation of gene expression. Genome wide association studies (GWAS)…”
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Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing
Published in Nature genetics (01-08-2011)“…Alon Keinan and colleagues estimate the ratio of genetic diversity on the X chromosome to that on the autosome (X/A) on the basis of whole-genome sequencing of…”
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Strong Constraint on Human Genes Escaping X-Inactivation Is Modulated by their Expression Level and Breadth in Both Sexes
Published in Molecular biology and evolution (01-02-2016)“…In eutherian mammals, X-linked gene expression is normalized between XX females and XY males through the process of X chromosome inactivation (XCI). XCI…”
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Clustered mutations in hominid genome evolution are consistent with APOBEC3G enzymatic activity
Published in Genome research (01-05-2016)“…The gradual accumulation of mutations by any of a number of mutational processes is a major driving force of divergence and evolution. Here, we investigate a…”
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Abstract 3544: High performance multiplexed targeted enrichment sequencing from FFPE tissues
Published in Cancer research (Chicago, Ill.) (01-07-2019)“…Library construction for Next-Generation Sequencing (NGS) using formalin-fixed paraffin-embedded (FFPE) samples offers unique challenges in acquiring…”
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PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes
Published in Nucleic acids research (01-07-2006)“…We have developed a web tool, PupaSuite, for the selection of single nucleotide polymorphisms (SNPs) with potential phenotypic effect, specifically oriented to…”
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Genome-wide heterogeneity of nucleotide substitution model fit
Published in Genome biology and evolution (01-01-2011)“…At a genomic scale, the patterns that have shaped molecular evolution are believed to be largely heterogeneous. Consequently, comparative analyses should use…”
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