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Open AccessJournal ArticleDOI

NextGenMap: Fast and accurate read mapping in highly polymorphic genomes

TLDR
NextGenMap is reported, a fast and accurate read mapper, which aligns reads reliably to a reference genome even when the sequence difference between target and reference genome is large, i.e. highly polymorphic genome.
Abstract
Summary: When choosing a read mapper, one faces the trade off between speed and the ability to map reads in highly polymorphic regions. Here, we report NextGenMap, a fast and accurate read mapper, which reduces this dilemma. NextGenMap aligns reads reliably to a reference genome even when the sequence difference between target and reference genome is large, i.e. highly polymorphic genome. At the same time, NextGenMap outperforms current mapping methods with respect to runtime and to the number of correctly mapped reads. NextGenMap efficiently uses the available hardware by exploiting multi-core CPUs as well as graphic cards (GPUs), if available. In addition, NextGenMap handles automatically any read data independent of read length and sequencing technology. Availability: NextGenMap source code and documentation are available at: http://cibiv.github.io/NextGenMap/ Contact: fritz.sedlazeck@univie.ac.at Supplementary information: Supplementary data are available at Bioinformatics online.

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Citations
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The molecular basis of cold tolerance in Drosophila ananassae

TL;DR: In this paper, the authors propose a method to solve the problem of the problem: this paper.xii...,.. ] ].. ).. ).
Posted ContentDOI

A nonsense mutation in TFEC is the likely cause of the recessive piebald phenotype in ball pythons (Python regius)

TL;DR: C crowdsourcing of samples from commercial ball python breeders are used to investigate the genetic basis of a classic phenotype found in the pet trade, the piebald, and identify TFEC of the MIT-family of transcription factors as a candidate gene.
Journal ArticleDOI

Piebaldism and chromatophore development in reptiles are linked to the tfec gene

- 01 Feb 2023 - 
TL;DR: In this paper , the authors investigated the genetic basis of the recessive piebald phenotype, a pattern defect characterized by patches of unpigmented skin (leucoderma), and used a case-control approach to discover a nonsense mutation in the gene encoding the transcription factor tfec, implicating this gene in the leucodermic patches in ball pythons.
Journal ArticleDOI

Fetal Hydrops in Combination with Gonadoblastoid Testicular DysplasiaMay Represent a Lethal Type of Noonan Syndrome

TL;DR: A lethal form of Noonan syndrome in two fetuses with typical features combined with severe hydrops and gonadoblastoid testicular dysplasia is presented and a potential role of RIT1 in the pathogenesis of gonadOBlastoma is demonstrated.
Journal ArticleDOI

Intra-specific copy number variation of MHC class II genes in the Siamese fighting fish

TL;DR: This study shows that the three DAB genes were under different modes of selection, which also applies to their corresponding DAA genes that share similar pattern of polymorphism, and demonstrates a combined approach to study CNV within a species, which is crucial for the understanding of multigene family evolution and the fitness consequences.
References
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Journal ArticleDOI

Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI

Fast gapped-read alignment with Bowtie 2

TL;DR: Bowtie 2 combines the strengths of the full-text minute index with the flexibility and speed of hardware-accelerated dynamic programming algorithms to achieve a combination of high speed, sensitivity and accuracy.
Journal ArticleDOI

Genotype and SNP calling from next-generation sequencing data

TL;DR: Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data.
Journal ArticleDOI

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads.

TL;DR: A read mapper, Stampy, which uses a hybrid mapping algorithm and a detailed statistical model to achieve both speed and sensitivity, particularly when reads include sequence variation, which results in a higher useable sequence yield and improved accuracy compared to that of existing software.
Journal ArticleDOI

Tools for mapping high-throughput sequencing data

TL;DR: This survey focuses on classifying mappers through a wide number of characteristics to allow practitioners to compare the mappers more easily and find those that are most suitable for their specific problem.
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