Filter
AnalyskodBeskrivning
MELLIFR010Metagenomic sequencing
MELLIFR020Metagenomic sequencing
MELLIFR030Metagenomic sequencing
MELNXTR010Metagenomic sequencing
MELNXTR020Metagenomic sequencing
MELNXTR030Metagenomic sequencing
MELPCFR010Metagenomic sequencing
MELPCFR020Metagenomic sequencing
MELPCFR030Metagenomic sequencing
METKAPR050Metagenomic sequencing. 50 M read pairs.
METLIFR010Metagenomic sequencing
METLIFR020Metagenomic sequencing
METLIFR030Metagenomic sequencing
METNXTR010Metagenomic sequencing
METNXTR020Metagenomic sequencing
METNXTR030Metagenomic sequencing
METPCFR010Metagenomic sequencing
METPCFR020Metagenomic sequencing
METPCFR030Metagenomic sequencing
METPCFR050Metagenomic sequencing
WGLLIFC030Whole-genome sequencing, large batch sizes, PE 2x150, 30x coverage, Low input PCR-free library preparation. Requires batch size of 48 or more.
WGLPCFC030Order of 49 or more samples. Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
WGSLIFC030Whole-genome sequencing, low input strategy. PE 2x150, 30x coverage
WGSLIFC060Whole genome sequencing. Low input strategy. 60 X coverage. 2 x 150 M paired reads
WGSLIFC090Whole-genome sequencing, PE 2x150, 90x coverage, PCR-free library preparation using low-input protocol
WGSPCFC030Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
WGSPCFC060Whole genome sequencing, 60X coverage. TruSeq PCR free prep.
WGSPCFC090Whole genome sequencing, 90X coverage. TruSeq PCR free prep.
WGTLIFC030Whole genome sequencing of trio. Low input strategy. 30 X coverage
WGTPCFC030Trio/Family order. Whole genome sequencing, 30X coverage. TruSeq PCR free prep.
WGXCUSC000Rare Disease analysis of externally sequenced whole genome data. Delivery of results in Scout.
EXLKTTR020Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 20 M read pairs.
EXLKTTR040Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 40 M read pairs.
EXLKTTR060Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 60 M read pairs.
EXLKTTR080Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 80 M read pairs.
EXOKTTR020Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 20 M read pairs.
EXOKTTR030Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 30 M read pairs.
EXOKTTR040Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 40 M read pairs.
EXOKTTR060Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 60 M read pairs.
EXOKTTR080Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 80 M read pairs
EXOKTTR100Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 100 M read pairs.
EXOKTTR120Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 120 M read pairs.
EXOKTTR140Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 140 M read pairs.
EXTKTTR020Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 20 M read pairs.
EXTKTTR040Whole exome sequencing using Twist Biosciences core exome bait set and Kapa Hyper Plus library preparation, 40 M read pairs.
EXXCUSR000Rare Disease analysis of externally sequenced whole exome data. Delivery of results in Scout.
PALKTTR010Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 10 M read pairs.
PALKTTR020Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 20 M read pairs.
PALKTTR030Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 30 M read pairs.
PALKTTR040Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 40 M read pairs.
PALKTTR050Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 50 M read pairs.
PANKTTR010Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 10 M read pairs.
PANKTTR020Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 20 M read pairs.
PANKTTR030Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 30 M read pairs.
PANKTTR040Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 40 M read pairs.
PANKTTR050Panel-based sequencing using Twist Biosciences custom bait set and with Kapa Hyper Plus library preparation, 50 M read pairs.
RNAPOAR025RNA seq, poly-A based priming, 25 M read pairs, PE 2x150 bp using NovaSeq.
RNAPOAR030RNA seq, poly-A based priming, 30 M read pairs, PE 2x150 bp using NovaSeq
RNAPOAR050RNA seq, poly-A based priming, 50 M read pairs, PE 2x150 bp using NovaSeq.
RNAPOAR075RNA seq, poly-A based priming, 75 M read pairs, PE 2x150 bp using NovaSeq.
RNLPOAR025RNA seq, poly-A based priming, 25 M read pairs, PE 2x150 bp using NovaSeq, minimum 49 samples
RNLPOAR030RNA seq, poly-A based priming, 30 M read pairs, PE 2x150 bp using NovaSeq, minimum 49 samples.
RNLPOAR075RNA seq, poly-A based priming, 75 M read pairs, PE 2x150 bp using NovaSeq, minimum 49 samples.
RNXCUSR000Rare Disease analysis of externally sequenced RNA data. Delivery of results as agreed.
MWGNXTR003Microbial whole genome sequencing. 1-8 submitted samples. 3 M read pairs.
MWLNXTR002Microbial WGS, >=9 samples per submission. PE 2x100, Nextera prep. 2 M read pairs.
MWLNXTR003Microbial whole genome sequencing. 89-175 submitted samples. 3 M read pairs.
MWMNXTR002Microbial whole genome sequencing. Nextera prep. PE 2x100, 2 M read pairs
MWMNXTR003Microbial whole genome sequencing. 9-88 submitted samples. 3 M read pairs.
MWRNXTR003Microbial whole genome sequencing of routine samples. 3 M read pairs. Not available for all customers.
MWXNXTR002Microbial WGS, >176 samples per submission. PE 2x125, Modified Nextera prep. >50x coverage
MWXNXTR003Microbial whole genome sequencing. >175 submitted samples. 3 M read pairs.
VWGNXTK500Virus whole genome sequencing. Nextera sample prep. 2x100 sequencing. 0.5 M read pairs.
VWGNXTR001Viral whole genome sequencing (of amplicons). 1-48 submitted samples. 1 M read pairs.
VWLNXTR001Viral whole genome sequencing (of amplicons). >48 submitted samples. 1 M read pairs.
VWMNXTK500Virus whole genome sequencing >=24 samples. Nextera sample prep. 2x100 sequencing. 0.5 M read pairs.
RMLP10R300External prep. HiSeq2500 in rapid mode, ST 2x100 bp, 300 M read-pairs (2 lane)
RMLP10S130RML, NovaSeq S1, sequencing only, PE 2x100, 1300 M r-p
RMLP15R100RML, NovaSeq S4, sequencing only, PE 2x150, 100 M r-p
RMLP15R200RML, NovaSeq S4, sequencing only, PE 2x150, 200 M r-p
RMLP15R400RML, NovaSeq S4, sequencing only, PE 2x150, 400 M r-p
RMLP15R500RML, NovaSeq S4, sequencing only, PE 2x150, 500 M r-p
RMLP15R750RML, NovaSeq S4, sequencing only, PE 2x150, 750 M r-p
RMLP15R825RML, NovaSeq S4, sequencing only, PE 2x150, 825 M r-p
RMLP15S100RML, NovaSeq S4, sequencing only, PE 2x150, 1000 M r-p
RMLP15S125RML, NovaSeq S4, sequencing only, PE 2x150, 1250 M r-p
RMLP15S150RML, NovaSeq S4, sequencing only, PE 2x150, 1500 M r-p
RMLP15S175RML, NovaSeq S4, sequencing only, PE 2x150, 1750 M r-p
RMLS05R150External prep. HiSeq2500 in rapid mode, SR 1x50 bp, 150 M read-pairs (1 lane)
RMLS05R200RML, HiSeq 2500 high output, SR 1x50 cycles, 200 M r-p (one lane). Full flow cell must be ordered

WGSPCFC090

Whole genome sequencing, 90X coverage. TruSeq PCR free prep. wgs

AckrediteringISO/IEC 17025:2017
Svarstid21 dagar
Min. order1 prov
Sekvensdjup90 X
Provmängd2000 ng
PrioritetsalternativJa

Detaljer

Whole-genome sequencing, PE 2x150, 90x coverage using NovaSeq 6000, PCR-free library preparation. For cases where analysis in MIP has been requested, single nucleotide variants and short insertion/deletions will be identified using ensemble calling (GATK haplotype caller, Freebayes, samtools mpileup) and variants ranked according to expected disease causing potential. Top ranked variants for selected gene panel are uploaded to Scout for further evaluation. Cases analysed in MIP are accredited.

Begränsingar

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% (>99.5%) 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% (>99.7%) for detection of SNVs and >90% (>90%) of indels. Individual samples may have a better or poorer performance, which should be considered in the interpretation of the results.

Senast uppdaterad: Mon Mar 02 2020