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Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR

29 Jun 2020

Abstract excerpt

The detection of chromosomal aneuploidies and mosaicism degree in preimplantation embryos may be essential for achieving pregnancy. The aim of this study was to determine the robustness of diagnosing homogenous and mosaic aneuploidies using a validated algorithm and the minimal resolution for de novo and inherited deletions and duplications (Del/Dup). Two workflows were developed and validated: (a,b)...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32610655
DOI: 10.3390/genes11070724

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