Search Results - "Pimentel, Harold"
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Differential analysis of RNA-seq incorporating quantification uncertainty
Published in Nature methods (01-07-2017)“…By using bootstraps that estimate inferential variance, the sleuth method and software provide fast and highly accurate differential gene expression analysis…”
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Identification of novel transcripts in annotated genomes using RNA-Seq
Published in Bioinformatics (Oxford, England) (01-09-2011)“…We describe a new 'reference annotation based transcript assembly' problem for RNA-Seq data that involves assembling novel transcripts in the context of an…”
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Accounting for isoform expression increases power to identify genetic regulation of gene expression
Published in PLoS computational biology (01-02-2024)“…A core problem in genetics is molecular quantitative trait locus (QTL) mapping, in which genetic variants associated with changes in the molecular phenotypes…”
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4
Gene-level differential analysis at transcript-level resolution
Published in Genome Biology (12-04-2018)“…Compared to RNA-sequencing transcript differential analysis, gene-level differential expression analysis is more robust and experimentally actionable. However,…”
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Intron retention is a source of neoepitopes in cancer
Published in Nature biotechnology (01-12-2018)“…Neoepitopes derived from intron retention events are processed and presented on MHC I in cancer cell lines. We present an in silico approach to identifying…”
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A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis
Published in Nucleic acids research (29-01-2016)“…Differentiating erythroblasts execute a dynamic alternative splicing program shown here to include extensive and diverse intron retention (IR) events. Cluster…”
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TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
Published in Genome biology (25-04-2013)“…TopHat is a popular spliced aligner for RNA-sequence (RNA-seq) experiments. In this paper, we describe TopHat2, which incorporates many significant…”
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Zika infection of neural progenitor cells perturbs transcription in neurodevelopmental pathways
Published in PloS one (27-04-2017)“…A recent study of the gene expression patterns of Zika virus (ZIKV) infected human neural progenitor cells (hNPCs) revealed transcriptional dysregulation and…”
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A dynamic alternative splicing program regulates gene expression during terminal erythropoiesis
Published in Nucleic acids research (01-04-2014)“…Alternative pre-messenger RNA splicing remodels the human transcriptome in a spatiotemporal manner during normal development and differentiation. Here we…”
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Rosace: a robust deep mutational scanning analysis framework employing position and mean-variance shrinkage
Published in Genome Biology (24-05-2024)“…Deep mutational scanning (DMS) measures the effects of thousands of genetic variants in a protein simultaneously. The small sample size renders classical…”
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Erratum: Near-optimal probabilistic RNA-seq quantification
Published in Nature biotechnology (09-08-2016)“…Nat. Biotechnol. 34, 525–527 (2016); published online 4 April 2016; corrected after print 27 July 2016 In the version of this article initially published, in…”
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Near-optimal probabilistic RNA-seq quantification
Published in Nature biotechnology (01-05-2016)“…A pseudoalignment-based method enables faster quantification and measurement of uncertainty in RNA-seq experiments. We present kallisto, an RNA-seq…”
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Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
Published in Nature protocols (01-03-2012)“…Recent advances in high-throughput cDNA sequencing (RNA-seq) can reveal new genes and splice variants and quantify expression genome-wide in a single assay…”
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Evolutionary Persistence of DNA Methylation for Millions of Years after Ancient Loss of a De Novo Methyltransferase
Published in Cell (23-01-2020)“…Cytosine methylation of DNA is a widespread modification of DNA that plays numerous critical roles. In the yeast Cryptococcus neoformans, CG methylation occurs…”
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An evolved AAV variant enables efficient genetic engineering of murine T cells
Published in Cell (19-01-2023)“…Precise targeting of large transgenes to T cells using homology-directed repair has been transformative for adoptive cell therapies and T cell biology…”
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Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits
Published in American journal of human genetics (07-07-2022)“…Despite the growing number of genome-wide association studies (GWASs), it remains unclear to what extent gene-by-gene and gene-by-environment interactions…”
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kallisto, bustools and kb-python for quantifying bulk, single-cell and single-nucleus RNA-seq
Published in Nature protocols (10-10-2024)“…The term 'RNA-seq' refers to a collection of assays based on sequencing experiments that involve quantifying RNA species from bulk tissue, single cells or…”
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Erratum: near-optimal probabilistic RNA-seq quantification
Published in Nature biotechnology (01-08-2016)Get full text
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The Lair: a resource for exploratory analysis of published RNA-Seq data
Published in BMC bioinformatics (01-12-2016)“…Increased emphasis on reproducibility of published research in the last few years has led to the large-scale archiving of sequencing data. While this data can,…”
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Abstract 5719: RNA-based tumor neoantigens from intron retention
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Background: Tumor neoantigens contribute to cancer immunity and may influence selective immune checkpoint inhibitor response. Translation of nonsynonymous…”
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