ArticleHuman mutation2012
Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease.The Journal of international medical research · 2021Article
- Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.Human molecular genetics · 2017Article
- Photonic crystals: emerging biosensors and their promise for point-of-care applications.Chemical Society reviews · 2017Review
- Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Pediatric research · 2017Review
- Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.BMC medical genetics · 2015Article
- Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.Human molecular genetics · 2015Article
- Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.American journal of human genetics · 2015Article
- Characterisation of Toll-like receptors 4, 5 and 7 and their genetic variation in the grey partridge.Genetica · 2015Article
- Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation.European journal of human genetics : EJHG · 2014Review
- A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.Molecular genetics & genomic medicine · 2014Article
- Up-regulated FHL1 expression maybe involved in the prognosis of Hirschsprung's disease.International journal of medical sciences · 2014Article
- Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.Nature medicine · 2013Article
- Evaluation of a benchtop HIV ultradeep pyrosequencing drug resistance assay in the clinical laboratory.Journal of clinical microbiology · 2013Article
- Haplessly hoping: macaque major histocompatibility complex made easy.ILAR journal · 2013Review
- Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.PloS one · 2013Article
- Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.Orphanet journal of rare diseases · 2012Article
- High-throughput multilocus sequence typing: bringing molecular typing to the next level.PloS one · 2012Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Next-generation sequencing (NGS) technologies can be a boon to human mutation detection given their high throughput: consequently, many genes and samples may be simultaneously studied with high coverage for accurate detection of heterozygotes. In circumstances requiring the intensive study of a few genes, particularly in clinical applications, a rapid turn around is another desirable goal. To this end, we assessed the performance of the bench-top 454 GS Junior platform as an optimized solution for mutation detection by amplicon sequencing of three type 3 semaphorin genes SEMA3A, SEMA3C, and SEMA3D implicated in Hirschsprung disease (HSCR). We performed mutation detection on 39 PCR amplicons totaling 14,014 bp in 47 samples studied in pools of 12 samples. Each 10-hr run was able to generate ∼75,000 reads and ∼28 million high-quality bases at an average read length of 371 bp. The overall sequencing error was 0.26 changes per kb at a coverage depth of ≥20 reads. Altogether, 37 sequence variants were found in this study of which 10 were unique to HSCR patients. We identified five missense mutations in these three genes that may potentially be involved in the pathogenesis of HSCR and need to be studied in larger patient samples.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.