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Figure 2 | Genome Medicine

Figure 2

From: Preimplantation genetic diagnosis guided by single-cell genomics

Figure 2

Single-cell genomics pipelines for PGD. After biopsy, the whole genome is amplified (WGA) and analyzed on a high-throughput platform by microarray comparative genomic hybridization and analysis, SNP-array analysis or massively parallel sequence analysis. All single-cell data need to be normalized and interpreted against a background of WGA error (such as GC bias). Every platform has its resolution limits and allows the detection of different types of genetic variants, as indicated on the right. aCGH, array comparative genomic hybridization; BAF, SNP B-allele fraction; LOH, loss of heterozygosity; MDA, multiple displacement amplification; NGS, next-generation sequencing; SNP, single-nucleotide polymorphism.

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