Comparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening
BACKGROUND: prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in ord...
| Veröffentlicht in: | Journal of prenatal medicine. - 2007. - 8(2014), 3-4 vom: 05. Apr., Seite 57-69 |
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| Weitere Verfasser: | , , , , , , , , |
| Format: | Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2014
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| Zugriff auf das übergeordnete Werk: | Journal of prenatal medicine |
| Schlagworte: | Case Reports Journal Article Copy Number Variation (CNV) next generation sequencing prenatal diagnosis |
| Zusammenfassung: | BACKGROUND: prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with benchtop NGS platform and routine clinical diagnosis METHODS: we developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations) RESULTS: we show a new targeted resequencing approach applied to prenatal diagnosis. For sample processing we used an enrichment method for 4,813 genes library preparation; after sequencing our bioinformatic pipelines allowed both SNPs analysis for approximately thirty diseases or diseases family involved in fetus development and numerical chromosomal anomalies screening CONCLUSIONS: results obtained are compatible with those obtained through the gold standard technique, aCGH array, moreover allowing identification of genes involved in chromosome deletions or duplications and exclusion of point mutation on allele not affected by chromosome aberrations |
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| Beschreibung: | Date Completed 12.08.2015 Date Revised 29.09.2020 published: Print Citation Status PubMed-not-MEDLINE |
| ISSN: | 1971-3282 |