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3 results on '"HiSeq 4000"'

1. Comparison of the MGISEQ-2000 and Illumina HiSeq 4000 sequencing platforms for RNA sequencing

Author

Sol A Jeon, Jong Lyul Park, Jong-Hwan Kim, Jeong Hwan Kim, Yong Sung Kim, Jin Cheon Kim, and Seon-Young Kim

Subjects
benchmarking, HiSeq 4000, MGISEQ-2000, Genetics, QH426-470
Abstract

Currently, Illumina sequencers are the globally leading sequencing platform in the next-generation sequencing market. Recently, MGI Tech launched a series of new sequencers, including the MGISEQ-2000, which promise to deliver high-quality sequencing data faster and at lower prices than Illumina’s sequencers. In this study, we compared the performance of two major sequencers (MGISEQ-2000 and HiSeq 4000) to test whether the MGISEQ-2000 sequencer delivers high-quality sequence data as suggested. We performed RNA sequencing of four human colon cancer samples with the two platforms, and compared the sequencing quality and expression values. The data produced from the MGISEQ-2000 and HiSeq 4000 showed high concordance, with Pearson correlation coefficients ranging from 0.98 to 0.99. Various quality control (QC) analyses showed that the MGISEQ-2000 data fulfilled the required QC measures. Our study suggests that the performance of the MGISEQ-2000 is comparable to that of the HiSeq 4000 and that the MGISEQ-2000 can be a useful platform for sequencing.

Published
2019
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2. Meeting the challenges of implementing rapid genomic testing in acute pediatric care.

Author

Tan T.Y., Regan M., Elliott J., Martyn M., Best S., Gaff C.L., White S.M., Stark Z., Lunke S., Brett G.R., Tan N.B., Stapleton R., Kumble S., Yeung A., Phelan D.G., Chong B., Fanjul-Fernandez M., Marum J.E., Hunter M., Jarmolowicz A., Prawer Y., Riseley J.R., Tan T.Y., Regan M., Elliott J., Martyn M., Best S., Gaff C.L., White S.M., Stark Z., Lunke S., Brett G.R., Tan N.B., Stapleton R., Kumble S., Yeung A., Phelan D.G., Chong B., Fanjul-Fernandez M., Marum J.E., Hunter M., Jarmolowicz A., Prawer Y., and Riseley J.R.

Abstract

Purpose: The purpose of the study was to implement and prospectively evaluate the outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Method(s): Rapid singleton whole-exome sequencing (rWES) was performed in acutely unwell pediatric patients with suspected monogenic disorders. Laboratory and clinical barriers to implementation were addressed through continuous multidisciplinary review of process parameters. Diagnostic and clinical utility and cost-effectiveness of rWES were assessed. Result(s): Of 40 enrolled patients, 21 (52.5%) received a diagnosis, with median time to report of 16 days (range 9-109 days). A result was provided during the first hospital admission in 28 of 36 inpatients (78%). Clinical management changed in 12 of the 21 diagnosed patients (57%), including the provision of lifesaving treatment, avoidance of invasive biopsies, and palliative care guidance. The cost per diagnosis was AU$13,388 (US$10,453). Additional cost savings from avoidance of planned tests and procedures and reduced length of stay are estimated to be around AU$543,178 (US$424,101). The clear relative advantage of rWES, joint clinical and laboratory leadership, and the creation of a multidisciplinary "rapid team" were key to successful implementation. Conclusion(s): Rapid genomic testing in acute pediatrics is not only feasible but also cost-effective, and has high diagnostic and clinical utility. It requires a whole-of-system approach for successful implementation.Copyright © 2018, American College of Medical Genetics and Genomics.

Published
2019

3. Comparison of the MGISEQ-2000 and Illumina HiSeq 4000 sequencing platforms for RNA sequencing

Author

Jeon, Sol A, Park, Jong Lyul, Kim, Jong-Hwan, Kim, Jeong Hwan, Kim, Yong Sung, Kim, Jin Cheon, and Kim, Seon-Young

Subjects
lcsh:QH426-470, Sequencing data, RNA, MGISEQ-2000, Health Informatics, Computational biology, Biology, Human colon cancer, Research Communication, lcsh:Genetics, Data sequences, Genetics, benchmarking, HiSeq 4000, Ecology, Evolution, Behavior and Systematics
Abstract

Currently, Illumina sequencers are the globally leading sequencing platform in the next-generation sequencing market. Recently, MGI Tech launched a series of new sequencers, including the MGISEQ-2000, which promise to deliver high-quality sequencing data faster and at lower prices than Illumina's sequencers. In this study, we compared the performance of two major sequencers (MGISEQ-2000 and HiSeq 4000) to test whether the MGISEQ-2000 sequencer delivers high-quality sequence data as suggested. We performed RNA sequencing of four human colon cancer samples with the two platforms, and compared the sequencing quality and expression values. The data produced from the MGISEQ-2000 and HiSeq 4000 showed high concordance, with Pearson correlation coefficients ranging from 0.98 to 0.99. Various quality control (QC) analyses showed that the MGISEQ-2000 data fulfilled the required QC measures. Our study suggests that the performance of the MGISEQ-2000 is comparable to that of the HiSeq 4000 and that the MGISEQ-2000 can be a useful platform for sequencing.

Published
2019

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