Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics
| Autor: | Straver, R. |
|---|---|
| Přispěvatelé: | Meijers-Heijboer, Hanne, Reinders, M.J.T., Sistermans, Erik, Clinical genetics, Meijers-Heijboer, E.J., Sistermans, E.A. |
| Rok vydání: | 2018 |
| Předmět: |
Bioinformatics
Within-sample comparison Testing CNV Trisomy Noninvasive Fetal fraction Chromosomal aberration NIPD Monosomy Fetal DNA Next generation sequencing Prenatal High throughput sequencing cfDNA FRA10B Diagnostics SANEFALCON Cell free DNA Liquid biopsy Copy number variation WISECONDOR Whole exome sequencing Aneuploidy cffDNA Low coverage NIPS DEFRAG Nucleosome Whole genome sequencing Screening WISExome Fragile sites NIPT |
| Zdroj: | Straver, R 2018, ' Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics ', PhD, Vrije Universiteit Amsterdam . Straver, R 2018, ' Bioinformatic Approaches to Detecting Copy Number Variation in Next Generation Sequencing Data for Clinical Diagnostics ', Doctor of Philosophy, Vrije Universiteit Amsterdam . |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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