Identification of thalassemia gene cluster deletion by long-read whole-genome sequencing (LR-WGS).

CONCLUSION: Our results indicate that long-read WGS will be beneficial to the diagnosis of genetic diseases with pseudogenes or highly duplicated sequences and will enable clinical geneticists to inform high-risk couples and provide prenatal diagnosis.
PMID: 33400392 [PubMed - as supplied by publisher]

Source: International Journal of Laboratory Hematology - January 5, 2021 Category: Hematology Authors: Jiang F, Lyu GZ, Zhang VW, Li DZ Tags: Int J Lab Hematol Source Type: research