QCI Interpret for Hereditary

Screening 100,000 newborns using whole genome sequencing: The Genomics...

Tue, 25 Mar 2025 15:00:32 GMT

In this on-demand recording from ACMG 2024, hear from Dr. David Bick, Principal Clinician of the Newborn Genomes Program at Genomics England, as he discusses the first-of-its-kind initiative aiming to sequence the genomes of 100,000 newborns in England to screen for over 200 selected conditions.

In his talk, you will learn about:

The development and deployment of The Generation Study
How Genomics England selected the genes and conditions to include in the point-of-care test
How QIAGEN provided expert-curated content for 69,844 pathogenic or likely pathogenic variants across all 209 conditions
The variant prioritization strategy used by Genomics England to enable efficient and actionable reporting
The anticipated research outcomes and future plans

Learn more about how QIAGEN is supporting The Generation Study here.

QCI Interpret for Hereditary Disorders

Thu, 13 Mar 2025 09:58:16 GMT

Clinical labs face significant challenges in interpreting germline variants for hereditary disease diagnostics, including the overwhelming volume of genomic data, the complexity of variant classification, the need for rapid yet accurate interpretation, and the difficulty of maintaining up-to-date, evidence-based insights amid evolving guidelines and literature.

In this webinar, learn how QCI Interpret, clinical decision support software for variant interpretation and reporting, can help your lab rapidly identify pathogenic variants, improve diagnostic yields, and significantly reduce test turnaround time for hereditary diseases. Attendees will receive a demonstration of QCI Interpret’s unique capabilities and advanced features for germline variant interpretation. Key highlights will include how your lab can expedite variant interpretation by leveraging the most extensive, manually curated knowledge base, dynamically compute pathogenicity based on ACMG guidelines for every variant with full transparency, and leverage QCI Interpret’s proprietary human-certified AI approach to literature curation and variant classification to streamline your interpretation workflow.

Viewers will:

Learn about the latest enhancements to QCI Interpret for hereditary diseases, including enhanced filtering capabilities, addition of new annotation sources and efficiency improvements to reduce turnaround time.
Receive a demonstration of QCI Interpret’s analysis and interpretation workflows for hereditary diseases using targeted and extended gene panels, including whole-genome and whole-exome sequencing.
Learn about QIAGEN’s proprietary expert curation process for the knowledge base in QCI Interpret.
Explore unique time-saving features within QCI Interpret, including phenotype-driven ranking and automation of ACMG guidelines.

Streamline your hereditary diseases interpretation workflow with QCI Interpret

Fri, 11 Oct 2024 17:22:06 GMT

QCI Interpret for Hereditary Disorders (QCI Interpret)

Mon, 07 Oct 2024 19:50:47 GMT