34. RETROSPECTIVE PGT-A ANALYSIS FOR MULTIPLE DISPLACEMENT AMPLIFICATION PRODUCTS OF EMBRYOS CORRESPONDING TO 104 LIVE BIRTHS BY NEXT-GENERATION SEQUENCING (NGS)

2019 ◽  
Vol 39 ◽  
pp. e47-e48
Author(s):  
X. Shen ◽  
D. Chen ◽  
Y. Fu ◽  
C. Ding ◽  
Y. Xu ◽  
...  
2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Andrey Frolov ◽  
Yun Tan ◽  
Mohammed Waheed-Uz-Zaman Rana ◽  
John R. Martin

Diphallia or penile duplication is a rare congenital variant with an estimated frequency of 1 per 5 to 6 million live births. The extent of duplication varies widely and typically occurs with other malformations including urogenital, gastrointestinal, and musculoskeletal anomalies. Here we present a case of human diphallia that was detected during routine dissection of an 84-year-old cadaver. Upon thorough examination, this case was characterized as a complete bifid penis which was accompanied by hypospadias with no other anatomical abnormalities detected. To gain insights into the etiology of this case, we analyzed DNA procured from the body for putative genetic variants using Next Generation Sequencing (NGS) technology. Our results support clinical observations consistent with human diphallia being a polygenic syndrome and identify new genetic variants that might underlie its etiology.


Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  

2020 ◽  
Vol 16 ◽  
Author(s):  
Pelin Telkoparan-Akillilar ◽  
Dilek Cevik

Background: Numerous sequencing techniques have been progressed since the 1960s with the rapid development of molecular biology studies focusing on DNA and RNA. Methods: a great number of articles, book chapters, websites are reviewed, and the studies covering NGS history, technology and applications to cancer therapy are included in the present article. Results: High throughput next-generation sequencing (NGS) technologies offer many advantages over classical Sanger sequencing with decreasing cost per base and increasing sequencing efficiency. NGS technologies are combined with bioinformatics software to sequence genomes to be used in diagnostics, transcriptomics, epidemiologic and clinical trials in biomedical sciences. The NGS technology has also been successfully used in drug discovery for the treatment of different cancer types. Conclusion: This review focuses on current and potential applications of NGS in various stages of drug discovery process, from target identification through to personalized medicine.


2019 ◽  
Vol 58 (6) ◽  
pp. 872-876 ◽  
Author(s):  
Yung-Liang Liu ◽  
Tzu-Ning Yu ◽  
Ching-Hui Chen ◽  
Peng-Hui Wang ◽  
Chi-Huang Chen ◽  
...  

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 962
Author(s):  
Dario de Biase ◽  
Matteo Fassan ◽  
Umberto Malapelle

Next-Generation Sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]


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