Next-Generation Sequencing Targeted Chronic Lymphocytic Leukemia Panel: A Pilot Study

Exploring next-generation sequencing in chronic lymphocytic leukemia

Ljungström, V. 2016. Exploring next-generation sequencing in chronic lymphocytic leukemia. Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1251. 61 pp. Uppsala: Acta Universitatis Upsaliensis. ISBN 978-91-554-9674-6. Next-generation sequencing (NGS) techniques have led to major breakthroughs in the characterization of the chronic lymphocytic leukemia (CLL) ...

Next-generation sequencing in chronic lymphocytic leukemia: recent findings and new horizons

The rapid progress in next-generation sequencing technologies has significantly contributed to our knowledge of the genetic events associated with the development, progression and treatment resistance of chronic lymphocytic leukemia patients. Together with the discovery of new driver mutations, next-generation sequencing has revealed an immense degree of both intra- and inter-tumor heterogeneit...

Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling.

To adopt an efficient approach of identifying rare variants possibly related to Hirschsprung disease (HSCR), a pilot study was set up to evaluate the performance of a newly designed protocol for next generation targeted resquencing. In total, 20 Chinese HSCR patients and 20 Chinese sex-matched individuals with no HSCR were included, for which coding sequences (CDS) of 62 genes known to be in si...

Practice guidelines for Targeted Next Generation Sequencing

DNA sequencing is the most commonly used approach for mutation scanning and is widely regarded as the gold standard. Agreed practice guidelines for both the sequencing process and data analysis are important to achieve a high quality approach, with common quality standards across different laboratories. These guidelines do not constitute an experimental protocol or troubleshooting guide, rather...

Targeted Next-Generation Sequencing for Forensic Genomics