Graph-Based Genome Alignment and Genotyping with HISAT2 and HISAT-genotype
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Summary
This work presents a method named HISAT2 (hierarchical indexing for spliced alignment of transcripts 2) that can align both DNA and RNA sequences using a graph Ferragina Manzini index, and uses it to represent and search an expanded model of the human reference genome.
- Type
- article
- Published
- 2019-08-01
- Cited by
- 12,483
- References
- 48
- Access
- Open access
- OpenAlex
- https://openalex.org/W2964849163
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:199388685
Keywords
Genome, Genotyping, Computational biology, Reference genome, Haplotype
References
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- Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM
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- HISAT: a fast spliced aligner with low memory requirements
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- Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data
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- High Performance Computing: 6th Latin American Conference, CARLA 2019, Turrialba, Costa Rica, September 25–27, 2019, Revised Selected Papers
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- The impact of biological sex on alternative splicing
- From command-line bioinformatics to bioGUI
- Reconstructing the transcriptional ontogeny of maize and sorghum supports an inverse hourglass model of inflorescence development
- Testing implications of the polygenic model for the genetic analysis of loci identified through genome-wide association
- Alignment and mapping methodology influence transcript abundance estimation
- Temozolomide-induced guanine mutations create exploitable vulnerabilities of guanine-rich DNA and RNA regions in drug-resistant gliomas
- The little caterpillar that could – Tobacco Hornworm (Manduca sexta) caterpillars as a novel host model for the study of fungal virulence and drug efficacy
- Characterizing RNA stability genome-wide through combined analysis of PRO-seq and RNA-seq data
- Transcriptome assembly from long-read RNA-seq alignments with StringTie2
- Goodbye reference, hello genome graphs
- Whole Genome Sequencing of the Giant Grouper (Epinephelus lanceolatus) and High-Throughput Screening of Putative Antimicrobial Peptide Genes
- ASlive: a database for alternative splicing atlas in livestock animals
- Endogenous retroviruses are a source of oncogenic enhancers in acute myeloid leukemia
- Reference transcriptome data in silkworm Bombyx mori
- Generation of blastocyst-like structures from mouse embryonic and adult cell cultures
- High-resolution in vivo identification of miRNA targets by Halo-Enhanced Ago2 Pulldown
- Breakpoint refinement of genomic structural variation using split read analysis
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