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TLA-based haplotyping & NIPD development with professor de Laat

Webinar

 
TLA-based haplotyping & NIPD development with professor de Laat
 

In this webinar, Prof. de Laat will present Monogenic Non-invasive prenatal diagnostics NIPD (MG-NIPD) assay, where blood samples from both parents is used for Targeted Locus Amplification (TLA)-based phasing of selective heterozygous variants.

He will discuss:

• His research into how capture probes-based targeted sequencing of cfDNA from the pregnant mother and a tailored statistical analysis enables predicting fetal gene inheritance.
• How capture probes-based targeted sequencing of cfDNA from the pregnant mother and a tailored statistical analysis enables predicting fetal gene inheritance.
•Eighteen cases, focusing on specific genes predicts inherited alleles with >98% confidence, even at early stages of pregnancy.
•How MG-NIPD provides a robust, affordable methodology for non-invasive diagnosis that can replace invasive assessment of inheritance of monogenic diseases.


 
 
 
 

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