This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) of small fibroblast cell groups, which mimics the limited cell quantities typical of trophectoderm embryo biopsies. PTA’s consistent amplification reduces allelic dropout (ADO) and improves uniform coverage, overcoming challenges associated with conventional methods such as multiple displacement amplification (MDA).
Alina Samitova, Vera Belova, Iuliia Vasiliadis, Zhanna Repinskaia, Tatiana Gorodnicheva, Evgeny Romanov, Mariam Pogosyan, Emil Gaysin, Tatyana Nazarenko, Denis Rebrikov & Dmitriy Korostin