Identification of Copy Number Alterations from Next-Generation Sequencing Data

Nabavi, Sheida; Zare, Fatima

doi:10.1007/978-3-030-91836-1_4

Cited by 2 publications

(1 citation statement)

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“…MLPA can analyze up to 60 DNA sequences in a single reaction and detect CNVs, including small intragenic rearrangements, and it has proven to be a sensitive and accurate tool for rapid CNA estimation at the levels of complete chromosomes or single exons in the whole genome. Since genetic screening by NGS is becoming very popular [ 18 , 19 ], MLPA technology, running on the Sanger sequencing platform of the ABI 3700 DNA analyzer, incurs a significant operational overhead in genetic screening, necessitating the allocation of specialized equipment, technical knowledge, and human resources for its upkeep. Compared with prior methods, the MLPA-NGS platform is a sequencing and analysis technology that operates on an NGS framework compared with earlier methods.…”

Section: Introductionmentioning

confidence: 99%

Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations

Yang,

Xia,

Song

et al. 2023

Mol Neurobiol

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Both Duchenne muscular dystrophy (DMD; OMIM no. 310200) and spinal muscular atrophy (SMA; OMIM no. 253300/253550/253400/271150) are genetic disorders characterized by progressive muscle degeneration and weakness. Genetic copy number aberrations in the pathogenetic genes DMD and SMN1 lead to alterations in functional proteins, resulting in DMD and SMA, respectively. Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for the detection of common copy number aberrations (CNAs), including DMD and SMN1 deletions, both of which are associated with poor clinical outcomes. However, traditional MLPA assays only accommodate a maximum of 60 MLPA probes per test. To increase the number of targeted sequences in one assay, an MLPA-based next-generation sequencing (NGS) assay has been developed that is based on the standard MLPA procedure, allows high-throughput screening for a large number of fragments and samples by integrating additional indices for detection, and can be analyzed on all Illumina NGS platforms.

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Section: Introductionmentioning

confidence: 99%