Better Data, Better Health: December Issue
As we step into December, the festive season brings a sense of reflection and celebration. Advancements in genomics and rare disorders, from insights into androgen insensitivity syndrome (AIS) to the transformative impact of long-read sequencing (LRS) on genetic analysis. Discover how Geneyx innovative solutions and collaborative research are redefining diagnostics, improving patient care, and addressing complex genomic challenges. We have included the 4 posters we presented at ASHG 2024, if you have questions on these please reach out.
We’re excited to connect with you at conferences and events around the world next year, from the Festival of Genomics in vibrant London to ACMG in Los Angeles. We look forward to seeing you there.
[Interesting Publication] Familial androgen insensitivity syndrome caused by the AR N706S variant case report and systematic literature review
Androgen insensitivity syndrome (AIS) is an X-linked recessive disease and the most frequent cause of disorders of sex development (DSD) in 46,XY people, with a frequency of 1:20,000 to 1:100,000 new births. It arises from pathogenic variants in the androgen receptor (AR) gene on X chromosome, impairing androgen function.?
[Blog] Accurate Genetic Sequencing in Clinical Diagnosis
The field has progressed from Sanger sequencing to next-generation sequencing (NGS) and long-read sequencing (LRS). This article explores genetic sequencing techniques for rare disorders, their applications, challenges faced by diagnostic labs, and future prospects.
[Geneyx 4 posters] At this year's American Society of Human Genetics (#ASHG 2024)
Couldn’t attend ASHG 2024? Here’s a quick overview of the four posters presented by the Geneyx team.
1. Improvement of Copy Number Variant Analysis from Exome
Presented by Eli Sward, PhD
This poster, together with Twist Bioscience , highlights how sequencing with backbone probe enhancement improves CNV detection, addressing challenges in exome analysis.
2. Pathological Short Tandem Repeats Analysis by Long-Read Sequencing
Presented by Hagar Mor-Shaked ,PhD
领英推荐
This research emphasizes the power of long-read sequencing (LRS) in detecting short tandem repeat (STR) expansions and methylation abnormalities, offering improved accuracy for complex genomic regions.
3. From Validation to Diagnosis: Metadata Analysis of Long-Read Sequencing
Presented by Suzanne Claire Drury Drury, PhD
This meta-analysis of long-read sequencing includes validation and case studies to help understand what is needed to bridge the gap between validation and diagnosis.
4. Detection of a Pathogenic PRKN Inversion with DNA-RNA Combined Analysis
Presented by Willem Haagmans
This study introduces SVDuo, a novel approach from Geneyx Genomex Ltd. and Ocean Genomics, Inc. , integrating DNA and RNA analysis to effectively identify structural variants like the pathogenic PRKN inversion.
Upcoming event for Q1 2025
Festival of Genomics: 29 - 30 January 2025. London, UK
ACMG: USA 18-22 March 2025. Los Angeles
All the Best,
Team Geneyx