European Society of Human Genetics

OmicsEdge Unveils Groundbreaking Genotype Imputation Method at European Society of Human Genetics Meeting

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Tuesday, June 27, 2023

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GLASGOW, United Kingdom, June 27, 2023 /PRNewswire/ -- OmicsEdge, a vanguard in genetic technology, is delighted to announce the presentation of its new genotype imputation method at the European Society of Human Genetics (ESHG) meeting in Glasgow.

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GLASGOW, United Kingdom, June 27, 2023 /PRNewswire/ -- OmicsEdge, a vanguard in genetic technology, is delighted to announce the presentation of its new genotype imputation method at the European Society of Human Genetics (ESHG) meeting in Glasgow.
Genotype imputation is a statistical technique that predicts unknown genotypes using a reference panel of fully genotyped individuals.
"Our benchmarking results demonstrate that we have the world's leading genotype imputation method," proclaimed Dr. Puya Yazdi, the study's lead.
"Additionally, our method is especially more accurate when it comes to imputing rare variants, which are more important clinically speaking.

Element Enters the European Genomics Market with New Customers and a Growing Team

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Monday, June 5, 2023

Its flexibility enables us to produce high quality data with fast turnaround," said Stefaan Derveaux, manager of the Nucleomics Core at VIB.

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Its flexibility enables us to produce high quality data with fast turnaround," said Stefaan Derveaux, manager of the Nucleomics Core at VIB.
A year after launching the AVITI System, Element has completed successful installations across the United States, Asia and now Europe.
With the establishment of a European entity and a growing sales and support organization, Element can now support a wide variety of applications and research labs across the world.
"We look forward to bringing the benefits of AVITI's flexibility, data quality, ease of use, and excellent support team to a growing number of customers in the European market," said Molly He, PhD, Element CEO and Co-Founder.

BGI UK Launches HotMPS Chemistry and Sequencing Services

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Wednesday, July 20, 2022

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LONDON, July 20, 2022 /PRNewswire/ -- BGI UK is pleased to announce that it is ready to deploy HotMPS sequencing chemistry andservicesin the UK.

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LONDON, July 20, 2022 /PRNewswire/ -- BGI UK is pleased to announce that it is ready to deploy HotMPS sequencing chemistry andservicesin the UK.
As of the 6th of July, HotMPS chemistry and equipment have been made available to selected labs across the UK, and BGI UK plans to launch complementary products and services.
With global post-pandemic recovery, BGI is continuing to develop the sequencing capacity and service offering in the UK.
Ryan Liu, General Manager and Lab Director of BGI UK, indicated, "With the newly announced HotMPS sequencing products, we are excited to expand the range of services offered at our BGI UK lab.

CENTOGENE Contributes to Europe-Wide Efforts to Update Guidelines for Whole Genome Sequencing (WGS) in Rare Disease Diagnostics

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Monday, May 23, 2022

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CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 23, 2022 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the commercial-stage essential biodata life science partner for rare and neurodegenerative diseases, as part of a consortium of organizations in genetics, announced the release of updated recommendations for Whole Genome Sequencing (WGS) in the rare disease diagnostic setting. The report, which was published in the European Journal of Human Genetics, promotes standardized application of WGS – minimizing diagnostic delay to promote better health outcomes.

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At that time, the guidelines predominantly focused on Whole Exome Sequencing (WES) and gene panels to identify Single Nucleotide Variants (SNVs) and insertions/deletions (indels).
EuroGentest, Horizon2020s Solve-RD team, CENTOGENE, and organizations throughout Europe teamed up to evaluate and update the 2016 NGS guidelines to outline the clinical application of WGS.
Whole Genome Sequencing has been increasingly popular due to its advanced nature of capturing disease-causing variants in a single test.
CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository of over 650,000 individuals representing over 120 different countries.

nRichDX and Eppendorf to Jointly Present at ESHG 2022 Meeting

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Thursday, April 14, 2022

IRVINE, Calif., April 14, 2022 /PRNewswire/ -- nRichDX and Eppendorf will present data from the Revolution Semi-Automated Workflow™ powered by the epMotion® 5073 instrument at the upcoming European Society for Human Genetics (ESHG) 2022 Conference in Vienna, Austria on Saturday, June 11, 2022, from 10:00 am – 11:30 am CET.

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IRVINE, Calif., April 14, 2022 /PRNewswire/ -- nRichDX and Eppendorf will present data from the Revolution Semi-Automated Workflow powered by the epMotion 5073 instrument at the upcoming European Society for Human Genetics (ESHG) 2022 Conference in Vienna, Austria on Saturday, June 11, 2022, from 10:00 am 11:30 am CET.
The nRichDX Revolution Semi-Automated Workflow was developed in collaboration with Eppendorf and introduced in January 2021.
"We're excited to collaborate with our partner nRichDX at this year's ESHG conference," said Dr. Tim Schommartz, Global Marketing Manager Automated Liquid Handling at Eppendorf SE.
As digital solution, Eppendorf is developing new business models and transforming the Eppendorf portfolio to meet Industry 4.0 requirements.

Bionano Genomics Reports Third Quarter 2021 Financial Results and Highlights Recent Business Progress

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Thursday, November 4, 2021

for microarray and next-generation sequencing (NGS), we are transitioning Bionano Genomics from being the structural variation company into a data solutions provider.

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for microarray and next-generation sequencing (NGS), we are transitioning Bionano Genomics from being the structural variation company into a data solutions provider.
Chris Stewart, Chief Financial Officer of Bionano added: Q3 was another excellent quarter.
Gross margin for the third quarter of 2021 was 24.8%, compared to 37.3% in the prior quarter and 33.4% from the third quarter of 2020.
The increase in cash is primarily due to the equity raises that were completed in the first quarter of 2021.