Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.

ABSTRACT:

Objective

Preimplantation genetic testing for monogenic disorders (PGT-M) has been used for over 20 years to detect many serious genetic conditions. However, there is still a lack of reference materials (RMs) to validate the test performance during the development and quality control of PGT-M.

Method

Sixteen thalassemia cell lines from four thalassemia families were selected to establish the RMs. Each family consisted of parents with heterozygous mutations for α- and/or β-thalassemia and two children, at least one of whom carried a homozygous thalassemia mutation (proband). The RM panel consisted of 12 DNA samples (parents and probands in 4 families) and 4 simulated embryos (cell lines constructed from blood samples from the four nonproband children). Four accredited genetic

SUBMITTER: Zhao W 

PROVIDER: S-EPMC10807056 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature