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Exploring the dark genome: implications for precision medicine

Artikel i vetenskaplig tidskrift
Författare Tudor I Oprea
Publicerad i Mammalian Genome
Volym 30
Nummer/häfte 7-8
Sidor 192–200
ISSN 0938-8990
Publiceringsår 2019
Publicerad vid Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning
Sidor 192–200
Språk en
Länkar dx.doi.org/10.1007/s00335-019-09809...
Ämneskategorier Medicinsk genetik

Sammanfattning

The increase in the number of both patients and healthcare practitioners who grew up using the Internet and computers (so-called “digital natives”) is likely to impact the practice of precision medicine, and requires novel platforms for data integration and mining, as well as contextualized information retrieval. The “Illuminating the Druggable Genome Knowledge Management Center” (IDG KMC) quantifies data availability from a wide range of chemical, biological, and clinical resources, and has developed platforms that can be used to navigate understudied proteins (the “dark genome”), and their potential contribution to specific pathologies. Using the “Target Importance and Novelty Explorer” (TIN-X) highlights the role of LRRC10 (a dark gene) in dilated cardiomyopathy. Combining mouse and human phenotype data leads to increased strength of evidence, which is discussed for four additional dark genes: SLX4IP and its role in glucose metabolism, the role of HSF2BP in coronary artery disease, the involvement of ELFN1 in attention-deficit hyperactivity disorder and the role of VPS13D in mouse neural tube development and its confirmed role in childhood onset movement disorders. The workflow and tools described here are aimed at guiding further experimental research, particularly within the context of precision medicine. © 2019, Springer Science+Business Media, LLC, part of Springer Nature.

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