Prov | Beställt | Familj | Kön | Status | Vävnad | Ticket | Applikation | Bioinformatisk Analys |
---|---|---|---|---|---|---|---|---|
ADM1059A2 | 2020-11-18 | 643594 | male* ( analys: male ) | affected* | blood* | 643594 | WGTPCFC030* | mip-dna* |
ADM1059A1 | 2020-11-18 | 643594 | female* ( analys: female ) | unaffected* | blood* | 643594 | WGTPCFC030* | mip-dna* |
ADM1059A3 | 2020-11-18 | 643594 | female* ( analys: female ) | unaffected* | blood* | 643594 | WGTPCFC030* | mip-dna* |
Prov | Ankom | Biblioteksberedning | Beredd | Bait Set | Sekvensering | Sekvenserad | Bioinformatisk Analys | Svarsdatum |
---|---|---|---|---|---|---|---|---|
ADM1059A2* | 2020-11-20 | 1464:13 - Automated TruSeq DNA PCR-free library preparation method | 2020-11-26 | N/A | 1830:5 - NovaSeq 6000 Sequencing method | 2020-11-29 | mip-dna | 2020-12-04 (14 dagar) |
ADM1059A1* | 2020-11-20 | 1464:13 - Automated TruSeq DNA PCR-free library preparation method | 2020-11-26 | N/A | 1830:5 - NovaSeq 6000 Sequencing method | 2020-11-29 | mip-dna | 2020-12-04 (14 dagar) |
2ADM1059A3* | 2020-11-20 | 1464:13 - Automated TruSeq DNA PCR-free library preparation method | 2020-11-26 | N/A | 1830:5 - NovaSeq 6000 Sequencing method | 2020-11-29 | mip-dna | 2020-12-04 (14 dagar) |
Familj | MIP-version | Genpaneler | Genomversion |
---|---|---|---|
643594* | 10.2.2 | panel1 | grch37 |
Prov | Läspar [M] | Mappade sekvenser [%] | Medelsekvensdjup | Täckningsgrad 10x [%] | Duplikat [%] |
---|---|---|---|---|---|
ADM1059A2* | 424.3 | 99.88 | 37.72 | 99.98 | 13.08 |
ADM1059A1* | 343.3 | 99.86 | 29.9 | 99.49 | 11.4 |
ADM1059A3* | 522.7 | 99.9 | 41.1 | 99.96 | 12.78 |
Varianter finns uppladdade i Scout: scout.scilifelab.se/cust003/22018.0
Trio/Family order. Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
Whole genome sequencing does not provide a complete coverage of the human genome due to certain regions being difficult to accurately represent in sequence data. Typical (minimum) coverage of the disease relevant gene panel is >99.5% (>97%) of bases covered at 10x or more. Using reference samples from National Institute of Standards and Technology in US, we estimate sensitivity to >99.7% (>99.5%) for detection of SNVs and >85% (>90%) of indels. Individual samples may have a better or poorer performance, which should be considered in the interpretation of the results.
Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
Whole genome sequencing does not provide a complete coverage of the human genome due to certain regions being difficult to accurately represent in sequence data. Typical (minimum) coverage of the disease relevant gene panel is >99.5% (>97%) of bases covered at 10x or more. Using reference samples from the National Institute of Standards and Technology in the US, we estimate sensitivity to >99.7% (>99.5%) for detection of SNVs and >85% (>90%) of indels. Individual samples may have a better or poorer performance, which should be considered in the interpretation of the results. Samples analysed with somatic analysis (Balsamic) are not accredited.
Valtteri Wirta
Head of unit, Clinical Genomics