NGS: Bioinformatics
[NGS: Bioinformatik]
EPTIS factsheet 1349734 | Last revision 2025-04-10 | URL: https://www.eptis.bam.de/pts1349734 https://www.eptis.bam.de/pts1349734
| PT provider | ||||||||||||||||
| PT provider | Berufsverband Deutscher Humangenetiker e.V. Berufsverband Deutscher Humangenetiker e.V. | |||||||||||||||
| Based in | Germany | |||||||||||||||
| Language(s) | Deutsch, English | |||||||||||||||
| Remarks | The interlaboratory test NGS: Bioinformatics aims to evaluate the bioinformatics analysis pipeline of the participating laboratories. The necessary NGS data files in .fastq format are available for download on www.bvdh-ringversuche.de. The reads stem from a whole exome sequencing experiment. During registration, the participant has to select with which version of the human reference genome (with the respective patch version) the test scheme will be processed, hg19 or hg38. The regions for analysis are provided in a .bed file, all analysis must be restricted to the regions specified in the file, all regions in the file have to be analyzed. The reads need to be analyzed using the standard laboratory pipeline. Detected variants (both single nucleotide variants SNVs and small insertions and deletions) in the target regions need to be reported in a .vcf file that may be uploaded to the BVDH website www.bvdh-ringversuche.de. For this scheme variants need to be correctly identified, an interpretation of results is not necessary. For the correct nomenclature the rules of the VCF format 4.2 or higher need to be employed. | |||||||||||||||
| Keywords | ||||||||||||||||
| Product groups |
Health care / medical devices
Human test material |
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| Testing fields |
Medical analysis
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| Technical details | ||||||||||||||||
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| Aims of the PT scheme | ||||||||||||||||
| Target group of participants | Human Genetic laboratories and laboratories specialized in NGS methods | |||||||||||||||
| Linked to specific legislation / standards | ||||||||||||||||
| Additional, subsidiary aims | validation of testing methods | |||||||||||||||
| Number of participants | 30 | |||||||||||||||
| Accredited or otherwise reviewed by a 3rd party |
Accredited by Deutsche Akkreditierungsstelle (DAkkS) on the basis of DIN EN ISO 17043 German Medical Association |
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| Operation is commissioned / requested by | ||||||||||||||||
| Fees and frequency | ||||||||||||||||
| Participation fee | Information is available on the homepage (www.bvdh-ringversuche.de) | |||||||||||||||
| Regularly operated | Yes (Once per year) | |||||||||||||||
| Year of first operation | 2018 | |||||||||||||||
| Contact details of the PT provider | ||||||||||||||||
| Provider | Contact person | |||||||||||||||
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Berufsverband Deutscher Humangenetiker e.V.
Linienstraße 127 10115 Berlin Germany Phone: 030 55954411 Fax: 030 55954414 Web: https://www.bvdh-ringversuche.de https://www.bvdh-ringversuche.de |
Frau Susanne Brandt
Phone: 02403 838054 Fax: Email: brandt@bvdh.de brandt@bvdh.de |
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