Advances in Microfluidics and Lab-on-a-Chip Technologies

Advances in molecular biology are enabling rapid and efficient analyses for effective intervention in domains such as biology research, infectious disease management, food safety, and biodefense. The emergence of microfluidics and nanotechnologies has enabled both new capabilities and instrument sizes practical for point-of-care. It has also introduced new functionality, enhanced sensitivity, and reduced the time and cost involved in conventional molecular diagnostic techniques. This chapter reviews the application of microfluidics for molecular diagnostics methods such as nucleic acid amplification, next-generation sequencing, high resolution melting analysis, cytogenetics, protein detection and analysis, and cell sorting. We also review microfluidic sample preparation platforms applied to molecular diagnostics and targeted to sample-in, answer-out capabilities

Sequencing Genome in a Bottle samples

We are pleased to announce the release of a new addition to the Oxford Nanopore Open Data project: sequencing of several Genome in a Bottle samples (including the Ashkenazi Trio). Sequencing was performed with the 5 kHz upgrade to the Ligation Sequencing Kit V14 released in MinKNOW 23.04.05. As such the quality of data presented here should be representative of routine sequencing that can be performed by any lab using this latest release. These reference samples were sequenced with two PromethION flow cells each to yield around more than 200 Gbases sequencing data per sample. The following cell line samples were obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research: GM12878, GM24143, GM24149, GM24385 Data location As with previous releases the new dataset is available for anonymous download from an Amazon Web Services S3 bucket. The bucket is part of the Open Data on AWS project enabling sharing and analysis of a wide range of data. The data is located in the bucket at: s3://ont-open-data/giab_2023.05/ See the tutorials page for information on downloading the dataset. Sequencing Outputs Two flowcells were used to sequence each of the samples to high depth: Genome Description Cell line HG001 CEPH/UTAH GM12878 HG002 PGP Ashkenazi Son GM24385 HG003 PGP Ashkenazi Father GM24149 HG004 PGP Ashkenazi Mother GM24143 For each flowcell used in the sequencing the PromethION device outputs are available. All data is present as .pod files, along with associated summary files in a structured fashion. Further Information https://labs.epi2me.io/giab-2023.0