Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions-Reference-Cited by-同舟云学术

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Published:2020-09-28 Issue:4 Volume:101 Page:442-449
ISSN:0023-6837
Container-title:Laboratory Investigation
language:en
Short-container-title:Lab Invest

Author:

Watson Christopher M.^ORCID,Crinnion Laura A.,Lindsay Helen,Mitchell Rowena,Camm Nick,Robinson Rachel,Joyce Caroline^ORCID,Tanteles George A.^ORCID,Halloran Domhnall J. O’,Pena Sergio D. J.,Carr Ian M.,Bonthron David T.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,Pathology and Forensic Medicine

Link

https://www.nature.com/articles/s41374-020-00489-y.pdf

Reference25 articles.

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2. Gardner EJ, Lam VK, Harris DN, Chuang NT, Scott EC, Pittard WS, et al. The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology. Genome Res. 2017;27:1916–29.

3. Watson CM, Camm N, Crinnion LA, Clokie S, Robinson RL, Adlard J, et al. Increased sensitivity of diagnostic mutation detection by re-analysis incorporating local reassembly of sequence reads. Mol Diagn Ther. 2017;21:685–92.

4. Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, et al. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. Genome Biol. 2019;20:97.

5. Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA, et al. Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome. Hum Mutat. 2020;41:525–31.

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