Blueprint Genetics will be attending the 43^rd Human Genetics Society of Australasia (HGSA) Annual Scientific meeting in New Zealand

This year’s theme for the conference is “Winds of Change” to convey the importance of new developments in genetics and genomics, cancer genetics and engaging with the broader community, in particular, indigenous populations. There will also be committee planning sessions around ethics and translation, discoveries and therapies.

Read more about the conference and about the program from HGSA event page.

Blueprint Genetics will present the following posters on the conference: 

• • Improved diagnostic yield through optimised mapping quality and coverage of the PKD1 gene in ADPKD
  • Sequencing of RPGR-ORF15 leads to increased diagnostic yield in patients with inherited retinal dystrophies
  • Improved Clinical Utility of Next Generation Sequencing Panel Testing in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

> Read more: 8 things to consider when choosing genetic testing for your patient

Interested to learn more?

• Read the insights article about 6 things you might not know about WES
• Listen a webinar about difficult-to-sequence regions – PKD1 as case example
• Explore our insights Case Report: The Power of NGS-based CNV Analysis within an Exome

Meet our team!

Elvira Zilliacus, PhD, our Genetic Services Consultant and Meena Kumar our VP of North America Sales and Marketing will be attending the event and are looking forward to discussing our innovations in genetic diagnostics.