Ellumigen

ASHG 2024 - Detection of a pathogenic PRKN inversion by a novel DNA-RNA combined analysis of structural variants

ASHG 2024 - Detection of a pathogenic PRKN inversion by a novel DNA-RNA combined analysis of structural variants

ASHG 2024 - Detection of a pathogenic PRKN inversion by a novel DNA-RNA combined analysis of structural variants

ASHG 2024 - Detection of a pathogenic PRKN inversion by a novel DNA-RNA combined analysis of structural variants

Using SVDuo, a novel DNA-RNA combined SV caller, an inversion within the PRKN gene was detected along with novel transcripts. The inversion breakpoints are present in the intronic region surrounding exon 5. As a result, the PRKN gene, whose variants are known to lead to early onset Parkinson's disease, is missing expression of exon 5. Use SVDuo highlights the importance of a joint DNA-RNA approach in investigating rare diseases as this reveals key structural variants and their functional impact with high confidence.

Using SVDuo, a novel DNA-RNA combined SV caller, an inversion within the PRKN gene was detected along with novel transcripts. The inversion breakpoints are present in the intronic region surrounding exon 5. As a result, the PRKN gene, whose variants are known to lead to early onset Parkinson's disease, is missing expression of exon 5. Use SVDuo highlights the importance of a joint DNA-RNA approach in investigating rare diseases as this reveals key structural variants and their functional impact with high confidence.

Using SVDuo, a novel DNA-RNA combined SV caller, an inversion within the PRKN gene was detected along with novel transcripts. The inversion breakpoints are present in the intronic region surrounding exon 5. As a result, the PRKN gene, whose variants are known to lead to early onset Parkinson's disease, is missing expression of exon 5. Use SVDuo highlights the importance of a joint DNA-RNA approach in investigating rare diseases as this reveals key structural variants and their functional impact with high confidence.

Using SVDuo, a novel DNA-RNA combined SV caller, an inversion within the PRKN gene was detected along with novel transcripts. The inversion breakpoints are present in the intronic region surrounding exon 5. As a result, the PRKN gene, whose variants are known to lead to early onset Parkinson's disease, is missing expression of exon 5. Use SVDuo highlights the importance of a joint DNA-RNA approach in investigating rare diseases as this reveals key structural variants and their functional impact with high confidence.