#### Leveransrapport Clinical Genomics

- Leveransrapport för KTH, familj 643594
  Skapad: 2022-01-26

#### Kontakt Clinical Genomics

#### Kundinformation

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.