Crucial for understanding and treating diseases are the identification and risk assessment of the causative and contributing variants and mutations. NGS technology has revolutionized the systematic identification, screening and analyses of these Variants & Mutations and provided valuable insight into their effect and risk. Variants and Mutations can be analyzed for many purposes:

• For the identification and analyses of disease/phenotype contributing or associated Variants & Mutations in the coding part of the genome please visit our Exome NGS service.
• When your interest is in Variants & Mutations not specifically within the coding DNA sequences, you can choose between a Whole Genome Sequencing or a SNP Array based aproach.
• For Copy Number & Ploidy Variation, we refer to our sequencing service for exomes or whole genome depending on your needs or alternatively to a SNP Array based aproach.
• For solutions tailored to Variant & Mutation analyses for clinical diagnostics application, please refer to our diagnostics section
• Is your application not in the above list? Please contact us for custom options

Clients Question: Identification of variants and mutations in large population

• Sample collection of population (1000+ individuals)
• Exome capture & Sequencing with Biomics NGS service Exome sequencing
• Variants & Mutations Calling with Biomics Variants & Mutations pipeline
• Compare & Filter with Biomics Variants & Mutations pipeline
• Effect & Risc Analyses with Biomics Variants & Mutations pipeline
• Identification of causative variants & mutation
• Scientific Publication (in preparation)