Leveransrapport Clinical Genomics

Kontakt Clinical Genomics

Clinical Genomics
Science for Life Laboratory
Tomtebodavägen 23
171 65 Solna
P: (08) 524 81 500

Kundinformation

SWEDAC logo
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
Resultat baserade på valda genpaneler - panel1.
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
* Information given av kund

Varianter finns uppladdade i Scout: scout.scilifelab.se/cust003/22018.0

Teknisk beskrivning av analysen: WGTPCFC030

Trio/Family order. Whole genome sequencing, 30X coverage. TruSeq PCR free prep.

Begränsningar av analysen: WGTPCFC030

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.

Teknisk beskrivning av analysen: WGSPCFC030

Whole genome sequencing, 30X coverage. TruSeq PCR free prep.

Begränsningar av analysen: WGSPCFC030

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.

Signatur för godkännande av rapport

Valtteri Wirta
Head of unit, Clinical Genomics

Laboratoriet har inte haft ansvar för provtagningsstadiet och extraktion, resultaten gäller för provet såsom det har mottagits.
All kommunikation gällande ordern såsom tillägg, avvikelser eller ev undantag i metoden från Clinical Genomics finns tillgängligt i SupportSystem för detta ticket id. En stängd ticket kan närsomhelst öppnas upp igen för frågor.