Can Single-Cell Sequencing Detect Genomic Abnormalities Such as Uniparental Disomy (UPD)?
Uniparental disomy (UPD) refers to the inheritance of two homologous chromosomes from a single parent, rather than one from each parent. This genomic abnormality may arise due to meiotic recombination errors, mitotic missegregation, or post-zygotic chromosomal rescue in aneuploid embryos. With the advancement of single-cell sequencing technologies, it has become feasible to detect and characterize UPD and other structural or allelic aberrations at the single-cell level by analyzing genomic data.
The analytical workflow for detecting UPD using single-cell sequencing data typically includes the following steps:
Data Preprocessing
Conduct rigorous quality control procedures to remove low-quality cells, minimize technical noise, and perform normalization or transformation, ensuring the reliability of downstream genomic analyses.
Genotype Inference
Align sequencing reads to a reference genome to infer the genotype of each individual cell, enabling determination of the allelic composition at each genomic locus.
Copy Number Variation (CNV) Detection
Assess copy number at each genomic locus across single cells to detect CNVs. Although UPD is often copy-neutral, deviations in copy number may still provide supporting evidence for chromosomal abnormalities and help differentiate between UPD and other CNVs.
Detection of Copy-Neutral Loss of Heterozygosity (cn-LOH)
Identify regions of cn-LOH by analyzing allele frequency patterns at heterozygous loci. UPD typically manifests as cn-LOH affecting an entire chromosome or a specific segment, where heterozygosity is lost despite the retention of diploid copy number.
Statistical Validation
Perform statistical aggregation and comparative analysis across multiple single cells to confirm the presence and consistency of UPD or other chromosomal alterations, increasing the robustness and confidence of variant detection.
MtoZ Biolabs, an integrated chromatography and mass spectrometry (MS) services provider.
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