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Informatics

News on bioinformatics, software, genome analysis, variant classification, and IT in genetics, genomics, and molecular diagnostics.

The updated elPrep 5 sequencing processing platform is said to run 8 to 16 times faster than GATK while producing similar results, thanks to parallel computing and new algorithms.

The first stage generated a range of tools and resources for studying the nucleus in time and space including publicly available datasets and software.

The organizations will apply PacBio's HiFi sequencing to a rare disease cohort whose genomes have not yet yielded causal variants by other methods.

Following its recent acquisition of Curetis, OpGen has also shifted its focus onto its Unyvero molecular diagnostics platform and bioinformatics operations.

The company recently received FDA Emergency Use Authorization for its SARS-CoV-2 PCR test while its data-driven COVID-19 research initiative is moving along.

Bloomberg reports the US Centers for Medicare & Medicaid Services sent Orig3n a letter saying it has not corrected lab issues uncovered in an earlier inspection.

In an editorial at BMJ Opinion, two genetic counselors call for an increased focus on post-test patient care.

A new survey finds people in the US are getting their COVID-19 test results back faster, but not fast enough to help some viral control measures, NPR reports.

In PLOS this week: genomic analysis of malaria parasites in Ethiopia, loci linked to childhood BMI, and more.

Oct
21
Sponsored by
Roche

Target enrichment has been a major driver behind the clinical adoption of next-generation sequencing (NGS) over the last decade because it simplifies analysis and provides a cost-effective method of massive parallel resequencing. It has not only replaced Sanger sequencing, but it is actively dispensing the need for parallel copy number variant (CNV) analysis using classic techniques.

Oct
26
Sponsored by
Sophia Genetics

This webinar will discuss Genotypos Science Labs’ experience with a whole-exome sequencing solution supporting the detection of copy number variants (CNVs) for the management of complex cases.

Oct
27
Sponsored by
LGC SeraCare Life Sciences

This webinar features a panel of industry stakeholders in cancer diagnostics, proficiency testing and clinical care who will discuss the promise and challenges of liquid biopsy technologies in disease diagnosis, monitoring, and patient care management.

Oct
28
Sponsored by
NRGene

Molecular breeding methods such as genomic selection and genome-wide association studies often require high-density genotypic data from many samples, but the cost and complexity of genotyping at this scale may be prohibitive.