With the growing importance of sequencing technologies in human genetics, diagnostic and research laboratories are facing the challenge to correctly analyse and interpret the constantly increasing data amounts in a shorter time. The new version SEQUENCE Pilot version 4.4 supports you in mastering these daily challenges while maintaining high quality, sensitivity and specificity of your results.
Main innovations in SEQUENCE Pilot 4.4:
SEQNEXT (NGS):
- Whole genome mapping for an easy and fast analysis of large panels (e.g. TruSightOne from Illumina) including filtering of reads coming from pseudogene / homologous areas.
- Expanded and updated SNP DBs (ExAC and gnomAD included now).
- Easy change of transcript IDs for existing ROIs and already analysed NGS data.
- Information for a mutation can be displayed for all transcripts.
- Mutation calling down to 0.1% coverage.
- Patient identification and genotyping via SNP IDs with warning for a possible sample exchange.
- Improved repeat region and CNV analysis.
- Availability of genomic positions for the SEQUENCE Pilot internal mutation database (hg19, hg38 ...).
SEQPATIENT (Sanger):
- Availability of hg19 / hg38 genome as reference.
- Expanded and updated SNP DBs (ExAC and gnomAD included now).
- Easy change of transcript IDs for existing SeqPrimers.
- Information for a mutation can be displayed for all transcripts.
- Patient identification and genotyping via SNP IDs with warning for a possible sample exchange.
- Availability of genomic positions for the SEQUENCE Pilot internal mutation database (hg19, hg38 ...).
