Preimplantation Genetic Diagnosis International Society (PGDIS) Annual Conference
The annual PGDIS meeting brings together experts, researchers, and thought leaders to address research advances, education, and training in the field of preimplantation genetics. Takara Bio attended PGDIS 2019 on April 15–18, 2019 in Geneva, Switzerland to present our novel method to simultaneously screen CNVs and SNVs in a single tube.
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PGDIS 2019: talk abstract
Simultaneous detection of SNV and CNV in a single tube for preimplantation genetic testing
Novel approach enabling the simultaneous detection of SNV and CNV for PGT-M and PGT-A using a single-tube assay
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, CFTR. An individual must inherit two defective cystic fibrosis alleles, one from each parent, to have the disease. Worldwide, over 70,000 individuals are affected by this monogenic disease. Preimplantation genetic testing (PGT) aims to select healthy embryos by screening for chromosomal abnormalities and monogenic diseases. Often a limited number of cells or genetic material from the embryo is available to perform the detection of both aneuploidies and monogenic diseases, restricting accuracy and sample material. To overcome this challenge, we developed a novel single-tube assay that enables the simultaneous detection of both copy number variations (CNV) across the whole genome and single nucleotide variants (SNV) or small insertion/deletions (indels) located in the CFTR gene target region.
A novel protocol that enables the detection of both SNVs and CNVs from 1-5 cells in a single, low-pass sequencing run that saves time and money.
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