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Journal ArticleDOI

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

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TLDR
It is estimated that transcripts from ∼95% of multiexon genes undergoAlternative splicing and that there are ∼100,000 intermediate- to high-abundance alternative splicing events in major human tissues.
Abstract
We carried out the first analysis of alternative splicing complexity in human tissues using mRNA-Seq data. New splice junctions were detected in approximately 20% of multiexon genes, many of which are tissue specific. By combining mRNA-Seq and EST-cDNA sequence data, we estimate that transcripts from approximately 95% of multiexon genes undergo alternative splicing and that there are approximately 100,000 intermediate- to high-abundance alternative splicing events in major human tissues. From a comparison with quantitative alternative splicing microarray profiling data, we also show that mRNA-Seq data provide reliable measurements for exon inclusion levels.

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Citations
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Journal ArticleDOI

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

TL;DR: A flexible statistical framework is developed for the analysis of read counts from RNA-Seq gene expression studies, and parallel computational approaches are developed to make non-linear model fitting faster and more reliable, making the application of GLMs to genomic data more convenient and practical.
Journal ArticleDOI

UniProt: the universal protein knowledgebase in 2021

Alex Bateman, +132 more
TL;DR: The UniProtKB responded to the COVID-19 pandemic through expert curation of relevant entries that were rapidly made available to the research community through a dedicated portal and a credit-based publication submission interface was developed.
Journal ArticleDOI

Differential analysis of gene regulation at transcript resolution with RNA-seq

TL;DR: Cuffdiff 2, an algorithm that estimates expression at transcript-level resolution and controls for variability evident across replicate libraries, robustly identifies differentially expressed transcripts and genes and reveals differential splicing and promoter-preference changes.
Journal ArticleDOI

mRNA-Seq whole-transcriptome analysis of a single cell.

TL;DR: A single-cell digital gene expression profiling assay with only a single mouse blastomere is described, which detected the expression of 75% more genes than microarray techniques and identified 1,753 previously unknown splice junctions called by at least 5 reads.
References
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Journal ArticleDOI

Basic Local Alignment Search Tool

TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
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Mapping and quantifying mammalian transcriptomes by RNA-Seq.

TL;DR: Although >90% of uniquely mapped reads fell within known exons, the remaining data suggest new and revised gene models, including changed or additional promoters, exons and 3′ untranscribed regions, as well as new candidate microRNA precursors.
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BLAT—The BLAST-Like Alignment Tool

TL;DR: How BLAT was optimized is described, which is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences.
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A gene atlas of the mouse and human protein-encoding transcriptomes

TL;DR: In this paper, high-density oligonucleotide arrays offer the opportunity to examine patterns of gene expression on a genome scale, and the authors have designed custom arrays that interrogate the expression of the vast majority of proteinencoding human and mouse genes and have used them to profile a panel of 79 human and 61 mouse tissues.
Journal ArticleDOI

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

TL;DR: The pattern of isogene expression varies during muscle development in relation to the different origin of myogenic cells and primary/secondary fiber generations and is affected by neural and hormonal influences.
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Trending Questions (1)
How many percent of human mRNA are spliced?

Approximately 95% of multiexon genes in the human transcriptome undergo alternative splicing, leading to around 100,000 intermediate- to high-abundance splicing events in major tissues.