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Published in 2021 at "SoftwareX"
DOI: 10.1016/j.softx.2021.100692
Abstract: Abstract Identification of genetic variants is of crucial importance in the forthcoming era of precision medicine. Since the majority of variant callers require mapping reads to a reference genome, the reliability of the latter is…
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Keywords:
whisper indel;
read mapping;
short read;
indel sensitive ... See more keywords
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2
Published in 2022 at "Genome Research"
DOI: 10.1101/gr.276871.122
Abstract: Recent advancements in long-read sequencing have enabled the telomere-to-telomere (complete) assembly of a human genome and are now contributing to the haplotype-resolved complete assemblies of multiple human genomes. Because the accuracy of read mapping tools…
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Keywords:
complete assemblies;
accurate mapping;
read mapping;
fast accurate ... See more keywords
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Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2432-7
Abstract: BackgroundNowadays, according to valuable resources of high-quality genome sequences, reference-based assembly methods with high accuracy and efficiency are strongly required. Many different algorithms have been designed for mapping reads onto a genome sequence which try…
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Keywords:
mapping reads;
read mapping;
error rate;
rate ... See more keywords
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Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0170914
Abstract: RNA-seq reads containing part of the poly(A) tail of transcripts (denoted as poly(A) reads) provide the most direct evidence for the position of poly(A) sites in the genome. However, due to reduced coverage of poly(A)…
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Keywords:
poly sites;
poly read;
read mapping;
poly ... See more keywords
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Published in 2020 at "Plants"
DOI: 10.3390/plants9040439
Abstract: High-throughput sequencing technologies have rapidly developed during the past years and have become an essential tool in plant sciences. However, the analysis of genomic data remains challenging and relies mostly on the performance of automatic…
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Keywords:
variant calling;
plant;
analysis;
read mapping ... See more keywords