Publication: Copy Number Variation Analysis with Next Generation Sequencing
| dc.contributor.author | Uyanik, Bülent | |
| dc.contributor.author | Canbek, Sezin | |
| dc.contributor.institutionauthor | UYANIK, BÜLENT | |
| dc.date.accessioned | 2021-08-11T20:59:09Z | |
| dc.date.available | 2021-08-11T20:59:09Z | |
| dc.date.issued | 2020-12-14T00:00:00Z | |
| dc.description.abstract | Copy Number Variation Analysis with Next Generation Sequencing Bülent Uyanık1 , Sezin Canbek2 1 Bezmialem Vakıf Üniversitesi Tıp Fakültesi Tıbbi Genetik ABD. 2 Sağlık Bilimleri Üniversitesi Ümraniye Eğitim ve Araştırma Hastanesi Tıbbi Genetik Bölümü Objective: Aim of this study is present our medical genetics patients which have CNV mutations detected with NGS. Materials-Methods: We used The Clinical Exome Solution V2 kit (Sophia Genetics SA, Saint-Sulpice, Switzerland) for exome enrichment, with all procedures carried out according to the manufacturer’s protocols. This capture-based target enrichment kit covers 4490 genes with known inherited diseases causing mutations. Paired-end sequencing was performed on a NextSeq 500 system (Illumina, San Diego, CA, USA) with a read length of 150 x 2, while the base calling and image analysis were conducted using Real-Time Analysis (integrated to the NextSeq 500 system; Illumina) software. The BCL (base calls) binary is converted into FASTQ utilizing the Illumina package bcl2fastq. All bioinformatic analyses were performed on a Sophia DDM™ platform (Sophia Genetics SA), which includes algorithms for alignment, calling single nucleotide polymorphisms (SNPs) and small insertions/deletions (Pepper™, Sophia Genetics SA patented algorithm),calling copy number variations (Muskat™, Sophia Genetics SA patented algorithm). Results: This study shows that the next generation DNA sequencing method (with Sophia DDM ™) can display SNV, additionally heterozygous and homozygous deletions and duplications from single exonic to chromosomal levels. Conclusion: CNV analysis with NGS is an invaluable contribution to clinical practice. Keywords: CNV, NGS | |
| dc.identifier.doi | 10.13140/rg.2.2.18577.66402 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12645/29143 | |
| dc.subject | Uyanik B., Canbek S., -Copy Number Variation Analysis with Next Generation Sequencing-, 14. Ulusal Tıbbi Genetik Kongresi, İstanbul, Türkiye, 20 - 22 Kasım 2020, ss.61 | |
| dc.title | Copy Number Variation Analysis with Next Generation Sequencing | |
| dc.type | Conference Paper | |
| dspace.entity.type | Publication | |
| local.avesis.id | 07279a26-f462-43c0-950e-0aee2be6aa74 | |
| local.publication.isinternational | 0 | |
| relation.isAuthorOfPublication | 6cccc08a-a3f5-4f79-b95f-4045154501f4 | |
| relation.isAuthorOfPublication.latestForDiscovery | 6cccc08a-a3f5-4f79-b95f-4045154501f4 |