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The method of distinguishing maternal and paternal alleles from sequencing data, known as phasing, is an essential process in genetics research. However, without parental data to reference during analysis, the data is often separated by groups of alleles from each chromosome and are not assigned to a parent of origin.
A new article published in Cell Genomics shows how researchers have developed a method to identify maternal and paternal homologs.
To improve the phasing process, the researchers utilized specific DNA methylation patterns from maternally and paternally inherited alleles within the genome called imprinted differentially methylated regions (iDMRs).
Using methylation-detecting nanopore sequencing combined with single-cell template strand sequencing (Strand-seq), the researchers could assign a parent of origin to homologous chromosomes without parental sequencing data. This method was validated using diverse samples and resulted in highly successful results with a mismatch error rate of 0.31% for SNVs and 1.89% for insertions or deletions (indels).
The ability to perform parent-of-origin phasing may ultimately be used to improve the diagnosis of genetic diseases, especially in cases where variants have been inherited from parents.
To learn more about the study, read the full text here.
A new article published in Cell Genomics shows how researchers have developed a method to identify maternal and paternal homologs.
To improve the phasing process, the researchers utilized specific DNA methylation patterns from maternally and paternally inherited alleles within the genome called imprinted differentially methylated regions (iDMRs).
Using methylation-detecting nanopore sequencing combined with single-cell template strand sequencing (Strand-seq), the researchers could assign a parent of origin to homologous chromosomes without parental sequencing data. This method was validated using diverse samples and resulted in highly successful results with a mismatch error rate of 0.31% for SNVs and 1.89% for insertions or deletions (indels).
The ability to perform parent-of-origin phasing may ultimately be used to improve the diagnosis of genetic diseases, especially in cases where variants have been inherited from parents.
To learn more about the study, read the full text here.