Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing.

ABSTRACT: 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 current methods primarily rely on single-nucleotide polymorphism (SNP) array, we envision sequencing-based methods to become more accessible and cost-efficient. Here, we developed a novel sequencing-based methodology to haplotype and copy-number profile single cells. Following DNA amplification, genomic size and complexity is reduced through restriction enzyme digestion and DNA is ge

SUBMITTER: Masset H 

PROVIDER: S-EPMC9226495 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature