Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

摘要

The workflow of HLRS for PGT-M. Black arrows show the flow of information from the samples to the final identification results. The dotted frame on the left shows the pre-examination process to construct the carrier’s haplotype; the dotted frame on the right shows the clinical examination process to test the embryos