scholarly journals IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Daniel F. Schorderet ◽  
Alexandra Iouranova ◽  
Tatiana Favez ◽  
Leila Tiab ◽  
Pascal Escher
Keyword(s):  
Retinitis Pigmentosa ◽  
Molecular Diagnosis ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
Sequence Variant ◽  
Sequence Variants ◽  
Sequencing Platform ◽  
Capture Assay ◽  
Retinal Dystrophies ◽  
Exon Capture

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library, Roche NimbleGen) for 60 retinitis pigmentosa-linked genes and three candidate genes (942 exons). Pyrosequencing was performed on a Roche 454 GS Junior benchtop high-throughput sequencing platform. In total, 23 patients affected by retinitis pigmentosa were analyzed. Per patient, 39.6 Mb were generated, and 1111 sequence variants were detected on average, at a median coverage of 17-fold. After data filtering and sequence variant prioritization, disease-causing mutations were identified inABCA4,CNGB1,GUCY2D,PROM1,PRPF8,PRPF31,PRPH2,RHO,RP2, andTULP1for twelve patients (55%), ten mutations having never been reported previously. Potential mutations were identified in 5 additional patients, and in only 6 patients no molecular diagnosis could be established (26%). In conclusion, targeted exon capture and next-generation sequencing are a valuable and efficient approach to identify disease-causing sequence variants in retinal dystrophies.

scholarly journals Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

2014 ◽  
Vol 23 (3) ◽  
pp. 354-362 ◽  
Author(s):  
Erika Della Mina ◽  
Roberto Ciccone ◽  
Francesca Brustia ◽  
Baran Bayindir ◽  
Ivan Limongelli ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
Sequencing Platform

scholarly journals Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies

PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e88410 ◽  
Author(s):  
Marta de Castro-Miró ◽  
Esther Pomares ◽  
Laura Lorés-Motta ◽  
Raul Tonda ◽  
Joaquín Dopazo ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
High Throughput ◽  
Inherited Retinal Dystrophies ◽  
Retinal Dystrophies

scholarly journals Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

2018 ◽  
Vol 24 (9_suppl) ◽  
pp. 94S-103S ◽  
Author(s):  
Qi Wang ◽  
Lijuan Cao ◽  
Guangying Sheng ◽  
Hongjie Shen ◽  
Jing Ling ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Gene Sequencing ◽  
Hereditary Diseases ◽  
Sequencing Platform ◽  
Pathogenic Variants ◽  
Diagnosis Method ◽  
Inherited Thrombocytopenia ◽  
Thrombotic Diseases ◽  
Next Generation Sequencing Ngs

Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the routine diagnosis of patients with unexplained thrombocytopenia and analyzed the gene sequencing results to evaluate the value of NGS technology in the screening and diagnosis of inherited thrombocytopenia. From a cohort of 112 patients with thrombocytopenia, we screened 43 patients with hereditary features. For the blood samples of these 43 patients, a gene sequencing platform for hemorrhagic and thrombotic diseases comprising 89 genes was used to perform gene detection using NGS technology. When we combined the screening results with clinical features and other findings, 15 (34.9%) of 43patients were diagnosed with inherited thrombocytopenia. In addition, 19 pathogenic variants, including 8 previously unreported variants, were identified in these patients. Through the use of this detection platform, we expect to establish a more effective diagnostic approach to such disorders.

scholarly journals A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Blood ◽  
2016 ◽  
Vol 127 (23) ◽  
pp. 2791-2803 ◽  
Author(s):  
Ilenia Simeoni ◽  
Jonathan C. Stephens ◽  
Fengyuan Hu ◽  
Sri V. V. Deevi ◽  
Karyn Megy ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Genetic Test ◽  
Targeted Sequencing ◽  
Sequencing Platform ◽  
Key Points ◽  
Platelet Disorders

Key Points Developed a targeted sequencing platform covering 63 genes linked to heritable bleeding, thrombotic, and platelet disorders. The ThromboGenomics platform provides a sensitive genetic test to obtain molecular diagnoses in patients with a suspected etiology.

scholarly journals jackalope: a swift, versatile phylogenomic and high-throughput sequencing simulator

2019 ◽  
Author(s):  
Lucas A. Nell
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Population Genomics ◽  
R Package ◽  
Gene Trees ◽  
Sequencing Platform ◽  
Genomic Variants ◽  
Pacific Biosciences ◽  
Wide Range ◽  
Reference Genomes

AbstractHigh-throughput sequencing (HTS) is central to the study of population genomics and has an increasingly important role in constructing phylogenies. Choices in research design for sequencing projects can include a wide range of factors, such as sequencing platform, depth of coverage, and bioinformatic tools. Simulating HTS data better informs these decisions. However, current standalone HTS simulators cannot generate genomic variants under even somewhat complex evolutionary scenarios, which greatly reduces their usefulness for fields such as population genomics and phylogenomics. Here I present the R package jackalope that simply and efficiently simulates (i) variants from reference genomes and (ii) reads from both Illumina and Pacific Biosciences (PacBio) platforms. Genomic variants can be simulated using phylogenies, gene trees, coalescent-simulation output, population-genomic summary statistics, and Variant Call Format (VCF) files. jackalope can simulate single, paired-end, or mate-pair Illumina reads, as well as reads from Pacific Biosciences. These simulations include sequencing errors, mapping qualities, multiplexing, and optical/PCR duplicates. It can read reference genomes from FASTA files and can simulate new ones, and all outputs can be written to standard file formats. jackalope is available for Mac, Windows, and Linux systems.

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