When is an SNP not an SNP?
Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have no...
| Veröffentlicht in: | BioTechniques. - 1988. - (2024) vom: 12. Sept., Seite 1-9 |
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| Weitere Verfasser: | , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | BioTechniques |
| Schlagworte: | Journal Article PCR SNV Sanger sequencing T2T TCAF2 genotype in silico pseudogene segmental duplication |
| Zusammenfassung: | Genomic duplications are important sources of structural change and gene innovation. In humans, the most recent and highly identical sequences (>90% homology, >1 kb long) are known as segmental duplications (SDs). Single-nucleotide variants or single-nucleotide polymorphisms within SDs have not been systematically assessed due to limitations around mapping short-read sequencing data. Single-nucleotide variant rs62486260 was flagged in a study of familial renal stone disease but it was unclear whether it was real or an artifact resulting from the presence of a SD. We describe in silico and wet-lab approaches to investigate this, using segment-specific long-PCR assays, followed by short PCR for Sanger sequencing. Our conclusion was that rs62486260 is an artifact. Our approach can be generalized to deal with other such situations |
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| Beschreibung: | Date Revised 12.09.2024 published: Print-Electronic Citation Status Publisher |
| ISSN: | 1940-9818 |
| DOI: | 10.1080/07366205.2024.2387993 |