Rare and Hereditary Diseases Services
We offer a comprehensive solution for hereditary and rare disease data that detects both commonly accessible variants and relevant challenging variants such as mid-sized deletions, Alu elements and larger structural rearrangements.
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Seeing that exome and whole genome analysis is increasingly used, interpretation tools need to be able to narrow a large candidate variant list to a shortlist of medically relevant candidates. To achieve this, especially in the case of exome or WG data, we offer both ACMG variant classification and SeqOne’s proprietary HPO-aware variant ranking. A wide variety of public domain and commercial annotation databases such as OMIM are also included and are updated on a regular basis. Furthermore, our GenomeAlert tool automatically checks your previous analyses and flags those that might be significantly impacted by variant annotation changes.
Our exome and WGS support include both single patient and multiple family member analyses. We offer high-resolution exome and WGS CNVs that capture events ranging from 50 bases to chromosome level, providing a fast and cost-effective alternative to traditional techniques such as MPLA and micro-arrays.
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