News
Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Apr 30, 18

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…
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From phenotype to diagnosis: Blueprint Genetics launches an open digital platform to connect clinicians based on matching rare variants

Apr 12, 18

The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants. Diagnosing…
News
Blueprint Genetics on valittu vuoden 2017 Kasvunrakentajaksi

Mar 17, 17

Vuoden 2017 Kasvunrakentaja on Blueprint Genetics. Suomen pääomasijoitusyhdistys – FVCA:n ja PwC:n yhteistyössä järjestämän Kasvunrakentaja 2017 -kilpailun finaalissa etsittiin pääomasijoittajien yli 700 kohdeyhtiön joukosta mielenkiintoisinta ja innostavinta tarinaa. Suomen pääomasijoitusyhdistyksen ja PwC:n Kasvunrakentaja 2017 -kilpailun voittajaksi valittiin Blueprint Genetics, jonka geenitestausteknologia auttaa löytämään harvinaisia perinnöllisiä tauteja.
News
Comprehensive panel based approach to clinical genetics, with over 200 panels covering 14 medically relevant specialties

Feb 23, 17

We are on a mission to challenge the standards of clinical genetic diagnostics to enable better patient care. Over the last 5 years we have developed unique sequencing technologies, in-house bioinformatics and interpretation solutions to improve rare disease genetic diagnostics. Without compromising quality and performance, our innovations are enabling more affordable…

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