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This article, published in the journal Neuropediatrics, explores the use of optical genome mapping (OGM) as a potential routine clinical test for diagnosing genetic conditions. The authors conducted a validation study using 72 samples with known diagnoses and found that OGM was 97% concordant with previous diagnoses. They also tested 20 undiagnosed cases and identified potentially pathogenic deletions and insertions in disease-causing genes. Overall, the study demonstrates that OGM can detect large structural variants, has high concordance with other cytogenetic methods, and can provide diagnoses in cases where other tests are uninformative. [Extracted from the article]

This article, published in the journal Neuropediatrics, discusses the importance of early diagnosis of 5q spinal muscular atrophy (5q-SMA) and the challenges in identifying specific genetic variations associated with this condition. The study presents a bioinformatics workflow that combines short-read sequencing and long-read sequencing to detect homozygous SMN1 deletions and SMN1 single nucleotide variations (SNVs). The authors diagnosed 14 patients with 5q-SMA based on different genetic variations in the SMN1 gene. The article concludes that the integration of these sequencing approaches can enhance the accuracy and comprehensiveness of genomic analysis in clinical settings, leading to a better understanding of genetic variations and their impact on human health. [Extracted from the article]