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Most relevant Transcriptome and genome sequencing uncovers functional variation in humans. laPPalainen t, saMMeth
M, Friedländer Mr, ‘t hoen Pa, MonlonG J, riVas Ma, Gonzàlez-Porta M, kurbatoVa n, Griebel t, Ferreira PG,
scientific barann M, Wieland t, GreGer l, Van iterson M, alMlöF J, ribeca P, Pulyakhina i, esser d, GiGer t, tikhonoV a,
sultan M, bertier G, Macarthur dG, lek M, lizano e, buerMans hP, Padioleau i, schWarzMayr t, karlberG o,
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nGenilPineneltranutahleMMstislaVskiyteGleirinenontGoMeryon
nelly P, Mccarthy Mi, Flicek P, stroM tM; GeuVadis consortiuM, lehrach h, schreiber s, sudbrak r, carracedo
a, antonarakis se, häsler r, syVänen ac, Van oMMen GJ, brazMa a, MeitinGer t, rosenstiel P, GuiGó r, Gut
iG, estiVill X, derMitzakis et, Palotie a, deleuze JF, Gyllensten u, brunner h, VeltMan J, caMbon-thoMsen a,
ManGion J, bentley d, haMosh a. Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531.
PMID: 24037378.

• Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced
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• Supercomplex assembly determines electron flux in the mitochondrial electron transport chain. l-
aPuente
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• Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. keller a, Wes-
tenberGer a, sobrido MJ, García-Murias M, doMinGo a, sears rl, leMos rr, ordoñez-uGalde a, nicolas G, da
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EtRoViiyasaKibaKuMoVaäEasChPERgERatZsChiEDRiChlEPPERPitERiRiEtoJM, n i, P M, D C, J M, P M, s P, s K, K hR, n
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From the scientific point of view the most relevant were publications on high-impact
Highlights
journals of relevant research such as the identification of mutations in the gene enco-
ding PDGF-B as cause of brain calcifications published in Nature Genetics and co-leaded

by researchers of the group, together with basic research on mitochondrial DNA function
(Lapuente et al. Science)and on RNA seq that can have a profound impact in the re-
search of rare diseases.

Regarding projects the participation in a number of European projects is remarkable

including CHIBCHA,GEUVADIS, REQUITE, HELIX and EU-GEI and a number of European
or international Consortium. It is also important the collaboration the private-public
collaboration with projects such as LC-NGS APLICLINIC for the generation of bioinfor-

matics tools for next generation sequencing translation to clinical practice.

We have also collaborated in a number of clinical guidelines and actions at local, na-
tional, international level such us the elaboration of genetic diagnosis schemes for in-

herited cancer and intellectual disability and autism in Galicia, Fragile-X syndrome at
national level and an intensive work in the interdisciplinary committee at the IRDiRC.

Two spin-off of the group were launched in 2013 one dealing with genetic counseling
and a second with pharmacogenetics.
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Finally we have launched the project Innopharma for early drug discovery were a num- 20
ber a high throughput screening for molecules for targets of different diseases were T
OR
approved and rare diseases prioritized (and two projects on rare diseases supported).
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