ArticleBMC medical genetics2015
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.World journal of gastrointestinal surgery · 2026Trial
- Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease.Biomolecules · 2024Article
- Distribution of RET proto-oncogene variants in children with appendicitis.Molecular genetics & genomic medicine · 2022Article
- Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood.Clinical and translational gastroenterology · 2019Article
- Obstructed defecation-an enteric neuropathy? An exploratory study of patient samples.International journal of colorectal disease · 2019Article
- Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.Nature reviews. Gastroenterology & hepatology · 2018Review
- Article
- Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.Scientific reports · 2017Article
- Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Pediatric research · 2017Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR). The purpose of this study was the design of a panel of HSCR associated genes as a rapid and efficient tool to perform genetic screening in a series of patients.
methodsWe have performed NGS-based targeted sequencing (454-GS Junior) using a panel containing 26 associated or candidate genes for HSCR in a group of 11 selected HSCR patients.
resultsThe average percentage of covered bases was of 97%, the 91.4% of the targeted bases were covered with depth above 20X and the mean coverage was 422X. In addition, we have found a total of 13 new coding variants and 11 new variants within regulatory regions among our patients. These outcomes allowed us to re-evaluate the genetic component associated to HSCR in these patients.
conclusionsOur validated NGS panel constitutes an optimum method for the identification of new variants in our patients. This approach could be used for a fast, reliable and more thorough genetic screening in future series of patients.
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