Article
Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.
Nucleic acids research - 24 Jun 2022
Masset Heleen, Ding Jia, Dimitriadou Eftychia, Debrock Sophie, Tšuiko Olga, Smits Katrien, Peeraer Karen, Voet Thierry, Zamani Esteki Masoud, Vermeesch Joris R
Abstract excerpt
Single-cell whole-genome haplotyping allows simultaneous detection of haplotypes associated with monogenic diseases, chromosome copy-numbering and subsequently, has revealed mosaicism in embryos and embryonic stem cells. Methods, such as karyomapping and haplarithmisis, were deployed as a generic and genome-wide approach for preimplantation genetic testing (PGT) and are replacing traditional PGT methods. While...
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