Precise Exome Analysis of Blastocyst Biopsy Scale Samples Using Primary Template-Directed Amplification
Alina Samitova,
Vera Belova,
Iuliia Vasiliadis
et al.
Abstract:This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) on small fibroblast cell groups, mimicking the limited cell quantities typical of trophectoderm embryo biopsies. PTA’s consistent amplification reduces allelic dropout (ADO) and impoves uniform coverage, overcoming challenges associated with conventional methods such as multiple displacement amplification (MDA). Using fibroblast samples alongside well-characterised genomic references (E701, NA12878), we benchmar… Show more
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