Article
CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing.
PloS one - 1 Jan 2024
Xu Sijia, Shiomi Hiroki, Yamashita Yugo, Koyama Satoshi, Horie Takahiro, Baba Osamu, Kimura Masahiro, Nakashima Yasuhiro, Sowa Naoya, Hasegawa Koji, Suzuki Ayako, Suzuki Yutaka, Kimura Takeshi, Ono Koh
Abstract excerpt
Familial hypercholesterolemia is an inherited disorder that remains underdiagnosed. Conventional genetic testing methods such as next-generation sequencing (NGS) or target PCR are based on the amplification process. Due to the efficiency limits of polymerase and ligase enzymes, these methods usually target short regions and do not detect large mutations straightforwardly. This study combined the long-read...
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