Leveransrapport Clinical Genomics
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Leveransrapport för KTH, familj 643594
Datum: 2018-06-21
Kontakt Clinical Genomics
Clinical GenomicsScience for Life Laboratory
Tomtebodavägen 23
171 65 Solna
P: (08) 524 81 500
Kundinformation
| Prov | Familj | Kön | Status | Vävnad | Ticket | Analys |
|---|---|---|---|---|---|---|
| ADM1059A2 | 643594 | male ( analys: male ) | affected | N/A | 643594 | WGSPCFC030 |
| ADM1059A1 | 643594 | female ( analys: female ) | unaffected | N/A | 643594 | WGSPCFC030 |
| ADM1059A3 | 643594 | female ( analys: female ) | unaffected | N/A | 643594 | WGSPCFC030 |
| Prov | Ankomstdatum | Biblioteksberedning | Sekvensering | Analys | Svarsdatum |
|---|---|---|---|---|---|
| ADM1059A2 | N/A | N/A | 2016-04-15 | N/A | N/A |
| ADM1059A1 | N/A | N/A | 2016-04-15 | N/A | N/A |
| ADM1059A3 | N/A | N/A | 2016-04-15 | N/A | N/A |
| Familj | MIP-version | Genpaneler | Genomversion |
|---|---|---|---|
| 643594 | v4.0.3 | panel1 | GRCh37 |
| Prov | Läspar [M] | Mappade sekvenser [%] | Medelsekvensdjup | Täckningsgrad 10x [%] | Duplikat [%] |
|---|---|---|---|---|---|
| ADM1059A2 | 104.4 | 99.91 | 289.1 | 94.05 | 9.8 |
| ADM1059A1 | 94.6 | 99.9 | 160.0 | 94.04 | 9.8 |
| ADM1059A3 | 111.2 | 99.9 | 190.0 | 94.17 | 10.5 |
Varianter finns uppladdade i Scout: http://localhost:5000/cust000/643594
Teknisk beskrivning av analysen: WGSPCFC030
Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
Signatur för godkännande av rapport
Virta Waltteri
Head of unit, Clinical Genomics