scholarly journals Determination ofRETSequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing

2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
R. L. Margraf ◽  
J. D. Durtschi ◽  
J. E. Stephens ◽  
M. Perez ◽  
K. V. Voelkerding
Keyword(s):  
Next Generation Sequencing ◽  
Sequence Variation ◽  
High Resolution Melting ◽  
Next Generation ◽  
Sample Pooling ◽  
Melting Analysis ◽  
Multiple Sample ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Multisample, nonindexed pooling combined with next-generation sequencing (NGS) was used to discoverRETproto-oncogene sequence variation within a cohort known to be unaffected by multiple endocrine neoplasia type 2 (MEN2). DNA samples (113 Caucasians, 23 persons of other ethnicities) were amplified forRETintron 9 to intron 16 and then divided into 5 pools of <30 samples each before library prep and NGS. Two controls were included in this study, a single sample and a pool of 50 samples that had been previously sequenced by the same NGS methods. All 59 variants previously detected in the 50-pool control were present. Of the 61 variants detected in the unaffected cohort, 20 variants were novel changes. Several variants were validated by high-resolution melting analysis and Sanger sequencing, and their allelic frequencies correlated well with those determined by NGS. The results from this unaffected cohort will be added to theRETMEN2 database.

scholarly journals Analysis of the Gut Mycobiome in Adult Patients with Type 1 and Type 2 Diabetes Using Next-Generation Sequencing (NGS) with Increased Sensitivity—Pilot Study

Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1066
Author(s):  
Dominika Salamon ◽  
Agnieszka Sroka-Oleksiak ◽  
Artur Gurgul ◽  
Zbigniew Arent ◽  
Magdalena Szopa ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Total Cholesterol ◽  
Lower Number ◽  
Next Generation ◽  
Group A ◽  
Increased Sensitivity ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

The studies on microbiome in the human digestive tract indicate that fungi could also be one of the external factors affecting development of diabetes. The aim of this study was to evaluate the quantitative and qualitative mycobiome composition in the colon of the adults with type 1 (T1D), n = 26 and type 2 (T2D) diabetes, n = 24 compared to the control group, n = 26. The gut mycobiome was characterized in the stool samples using the analysis of the whole internal transcribed spacer (ITS) region of the fungal rDNA gene cluster by next-generation sequencing (NGS) with increased sensitivity. At the L2 (phylum) level, Basidiomycota fungi were predominant in all 3 study groups. Group T1D presented significantly lower number of Ascomycota compared to the T2D group, and at the L6 (genus) level, the T1D group presented significantly lower number of Saccharomyces genus compared to control and T2D groups. In the T1D group, a significant positive correlation between total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and fungi of the genus Saccharomyces, and in the T2D group, a negative correlation between the total cholesterol level and Malassezia genus was found. The obtained results seem to be a good foundation to extend the analysis of the relationship between individual genera and species of fungi and the parameters determining the metabolism of carbohydrates and lipids in the human body.

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

2019 ◽  
Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Alport Syndrome ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing
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