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Human Mutation
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SMN1copy-number and sequence variant analysis from next generation sequencing data

Authors: Lopez-Lopez, Daniel; Loucera, Carlos; Carmona, Rosario; Aquino, Virginia; Salgado, Josefa; Pasalodos, Sara; Miranda, María; +2 Authors

SMN1copy-number and sequence variant analysis from next generation sequencing data

Abstract

AbstractSpinal Muscular Atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion ofSMN1, while the vast majority of SMA carriers present only a singleSMN1copy. The sequence similarity betweenSMN1andSMN2, and the complexity of the SMN locus makes the estimation of the SMN1 copy-number by next generation sequencing (NGS) very difficult Here, we present SMAca, the first python tool to detect SMA carriers and estimate the absolute SMN1 copy-number using NGS data. Moreover, SMAca takes advantage of the knowledge of certain variants specific toSMN1duplication to also identify silent carriers. This tool has been validated with a cohort of 326 samples from the Navarra 1000 Genomes project (NAGEN1000). SMAca was developed with a focus on execution speed and easy installation. This combination makes it especially suitable to be integrated into production NGS pipelines. Source code and documentation are available on Github at:www.github.com/babelomics/SMAca

Keywords

next generation sequencing, Informatics, Base Sequence, DNA Copy Number Variations, Secuenciación de nucleótidos de alto rendimiento, pipeline, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Documentación, Survival of Motor Neuron 1 Protein, Boidae, Atrofia muscular espinal, Tuberías, Next generation sequencing, Pipeline, Humans, Nacimiento vivo, SMA, Genoma, Software

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
downloads
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18
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