Press release: TLA-based haplotyping to improve the quality of prenatal diagnostics24 August 2017
The University Medical Center Utrecht and Hubrecht Institute have announced the publication in the American Journal of Human Genetics entitled "Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping”.
The article describes how the use of TLA-based phasing of heterozygous variants of a gene of interest in parents, capture probes-based targeted sequencing of cfDNA from the pregnant mother, and a tailored statistical analysis enabling the prediction of fetal gene inheritance.
The article highlights the potential utility of TLA-based haplotyping to help improve the quality of prenatal genetic testing and/or genetic testing in combination with IVF.
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