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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
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
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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