SEQPATIENT is a powerful and user-friendly application for alignment and variant detection of Sanger sequencing data. SEQPATIENT can analyse data from all common sequencing platforms. Visualisation of all detected variants like deletions, insertions, indels and SNPs is clear and intuitive. Analysis of genomic DNA and cDNA is possible. A peak area statistic function guarantees the detection of low frequency mutations like allelic dropouts, mosaics and somatic variants.
SEQPATIENT offers access to public SNP-databases like dbSNP, 1000 Genomes, ClinVar, ExAC and gnomAD for classification and filtering. All result data can be exchanged with our variant database for Shared Experience And Knowledge - varSEAK, transferred to laboratory internal LIM Systems and / or issued as personalised patient reports.
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