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• b l, b s, e g, t c, s i, z l. Sporadic and
Most relevant AssAgAnyAseÀscArAMísornADorAlAVerriAApAtA
reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal
scientific genomic analysis.Leukemia. 2013 Dec;27(12):2376-9.

articles
• ‘t Hoen pA, FrieDlänDer Mr, AlMlöF J, sAMMetH M, pulyAKHinA i, AnVAr sy. Reproducibility
of high-throughput mRNA and small RNA sequencing across laboratories.Nat Biote-

chnol. 2013 Nov;31(11):1015-22.

• lAppAlAinen t, sAMMetH M, FrieDlänDer Mr, ‘t Hoen pA, Monlong J, riVAs MA. Transcripto-
me and genome sequencing uncovers functional variation in humans.Nature. 2013

Sep 26;501(7468):506-11.

• escArAMís g, tornADor c, bAssAgAnyAs l, rAbionet r, tubio JM, MArtínez-FunDicHely A.
PeSV-Fisher: identification of somatic and non-somatic structural variants using next

generation sequencing data.PLoS One. 2013;8(5):e63377.

• truJillAno D, rAMos MD, gonzález J, tornADor c, sotillo F, escArAMis g. Next generation
diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-

coverage resequencing of CFTR.J Med Genet. 2013 Jul;50(7):455-62.

We have performed a deep characterization of one case of chromotripsis by car-
Highlights
rying out a longitudinal analysis of structural variations and point mutations over
a period of eleven years of disease evolution, including the analysis of pre-treat-

ment samples, post-treatment and relapsed samples (Bassaganyas et al. Leuke-
í
mia, 2013; Escarams et al. PLoS One, 2013). We have identified association of
a specific CNV with adverse reproductive outcomes and with fibromyalgia (Do-

campo et al. PLoS One, 2013; Rodriguez-Revenga et al. Gene, 2013). We have

identified a common 45-kb deletion that affects BTNL8 and BTNL3, and leads to
downregulation of BTNL9 (Aigner et al. BMC Genet, 2013).

We have participated in more than 10 GWAS meta-analyses (Bradfield et al. Nat

Genet, 2012; Horikoshi et al. Nat Genet, 2013). The group has developed activi-
ties in the study of psychiatric disorders (Real et al. Pharmacogenomics J, 2013;

Alonso et al. J Anxiety Disord, 2013). The group has implemented whole-exome

and targeted sequencing as a diagnostic tool in the clinical setting (Trujillano et
al. Eur J Hum Genet, 2013; Trujillano et al. J Med Genet, 2013; Ramos M et al.

Clin Genet, 2013).

We have characterized small non-coding RNAs (sncRNAs), in brain samples from

individuals at different evolutionary stages of Parkinson’s disease and control
age-matched individuals (Llorens et al. BMC Genomics, 2013; Miñones-Moyano

et al. RNA Biol, 2013); and have contributed to a large international effort to
evaluate profiles of RNA in cell lines from individuals that are part of the 1000

genome sequencing project (Lappalainen et al. Nature, 2013; ‘t Hoen Pet al.

Nat Biotechnol, 2013). The group is evaluating the role of small CAG and CGG 13
repeated RNA (sCAG and sCGG) in generating toxic effects in neurons in Hun- 20
T
tington’s disease and fragile X-associated tremor ataxia syndrome (Mateu et al. OR
P
Neurobiol Dis, in press).
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