In: BMC Bioinformatics, 19 (2018), Nr. 157. S. 1-4. ISSN 1471-2105
Vorschau |
PDF, Englisch
Download (1MB) | Lizenz:  Creative Commons Namensnennung 4.0
|
Abstract
Background: Somatic copy number alterations (CNAs) contribute to the clinically targetable aberrations in the tumor genome. For both routine diagnostics and biomarkers research, CNA analysis in a single assay together with somatic mutations is highly desirable.
Results: Ioncopy is a validated method and easy-to-use software for CNA calling from targeted NGS data. Copy number and significance of CNA are estimated for each gene in each sample. Copy number gains and losses are called after multiple testing corrections controlling FWER or FDR.
Conclusions: Ioncopy facilitates calling of CNAs in a cohort of tumors tissues with or without using normal (germline) DNA controls.
| Dokumententyp: | Artikel |
|---|---|
| Titel der Zeitschrift: | BMC Bioinformatics |
| Band: | 19 |
| Nummer: | 157 |
| Verlag: | BioMed Central ; Springer |
| Ort der Veröffentlichung: | London ; Berlin ; Heidelberg |
| Erstellungsdatum: | 02 Mai 2018 09:29 |
| Erscheinungsjahr: | 2018 |
| ISSN: | 1471-2105 |
| Seitenbereich: | S. 1-4 |
| Institute/Einrichtungen: | Medizinische Fakultät Heidelberg und Uniklinikum > Pathologisches Institut |
| DDC-Sachgruppe: | 610 Medizin |
