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Clinical Research Exome - CRE V4

 

 

Clinical Research Exome - CRE V4.



The Agilent SureSelect Clinical Research Exome v4 is ideally suited to bridge the gap between Whole Exome Sequencing and Whole Genome Sequencing.

 

 
 

Highlights

 

  • Discover more with 10x less compared to WGS
  • Pre-capture pooling for very cost-efficient enrichment
  • Post-capture pooling available on request
  • Whole Exome Sequencing plus
    • non-coding pathogenic variants
    • PGx profiling
    • Mitochondrial genome
    • and many more
  • Fully automated, under diagnostics standards (ISO 17025)

Design

 

  • Target size: 41.1 Mb
  • Design size 48.5 Mb
  • Coding content (CCDS Release 22, GENCODE V31, ReefSeq Release 95) = 100 %
  • Non-coding content
    • ACMG 73 genes variants > 99.9%
    • ClinVar P/LP variants 100%
    • HGMD DM variants 100%
 

 
 

 

 

 

Product Specifications & Ordering

 

 

Product portfolio

 

  CRE v4 from 30x (pre-capture) CRE v4 110x (pre-capture) CRE v4 from 30x (post-capture)
Agilent Kit CRE V4 CRE V4 CRE V4
Capture size 41.1 Mb 41.1 Mb 41.1 Mb
Starting material Various sources, but NO FFPE Various sources, but NO FFPE Various sources, but NO FFPE
Batch size In batches of 8 samples In batches of 8 samples From single samples
On target coverage Approx 30x Approx 110x Approx 30x
Additional coverage available Yes (multiples of 10x) No Yes (multiples of 10x)
Raw data 4.05 Gb (+ 1.35 Gb / 10x) 14.85 Gb 4.05 Gb (+ 1.35 Gb / 10x)
Analysis of somatic mutations ++ ++ +++
Analysis of germline mutations +++ +++ +++
Delivery time 20 days up to 96 samples 20 days up to 96 samples 20 days for up to 32 samples
Express delivery time

9 days up to 24 samples

14 days up to 48 samples

9 days up to 24 samples

14 days up to 48 samples

9 days up to 24 samples

14 days up to 48 samples

Bioinformatics analysis available Yes Yes Yes

 

Starting material

Accepted starting material 

 

  • 100 ng for Qubit quantified gDNA (up to 100 µl / concentration > 1 ng/µl), Qubit quantified
  • QC passed: if DQN ≥ 4.0, Threshold = 10.000 (gDNA); if DQN ≥ 2.0,

 

Please note, that only S1-classified material is accepted for DNA isolation ordered online. More information about current classification of biological material can be found here (TRBA 466). Please contact us for further information on DNA isolation from other starting material such as environmental or industrial samples or material classified as S2.

 

Sequencing specifications & capture protocol

  • 2 x 150 bp paired-end sequencing mode on Illumina
  • Latest Agilent SureSelect Clinical Research Exome V4 Kit
  • Approx. 30x on target coverage
  • Flexible add-on coverage as multiples of 10x
  • Indexing before capture protocol (pre-capture) as well as post-capture available

Bioinformatics analysis

This service includes:

  • Mapping against genomic reference
  • Targeted region filtering
  • Alignment refinement
  • Detection of SNPs and InDels
  • Annotation of detected SNPs and InDels (using dbSNP)
  • Allocation of effects on protein level (using Ensembl)

 


Deliverables:

  • Alignment file (bam)
  • SNP and InDel tables including annotated variants and effects (vcf, tsv, bed)
  • Comprehensive data analysis report

 

Delivery time

  • 20 days up to 96 samples
  • Express TAT
    • Only available in batches of 8 samples
    • 9 days up to 24 samples
    • 14 days up to 48 samples

 
 

 

 

 

 

 

 

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