Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, Tubío JM, López C, Navarro A, Tornador C, Aymerich M, Rozman M, Hernández JM, Puente DA, Freije JM, Velasco G, Gutiérrez-Fernández A, Costa D, Carrió A, Guijarro S, Enjuanes A, Hernández L, Yagüe J, Nicolás P, Romeo-Casabona CM, Himmelbauer H, Castillo E, Dohm JC, de Sanjosé S, Piris MA, de Alava E, San Miguel J, Royo R, Gelpí JL, Torrents D, Orozco M, Pisano DG, Valencia A, Guigó R, Bayés M, Heath S, Gut M, Klatt P, Marshall J, Raine K, Stebbings LA, Futreal PA, Stratton MR, Campbell PJ, Gut I, López-Guillermo A, Estivill X, Montserrat E, López-Otín C, Campo E.
Nature
475 :
2011
101-105
945
Estimation of copy number alterations from exome sequencing data.
Valdés-Mas R, Bea S, Puente DA, López-Otín C, Puente XS.
PLoS One
7 :
2012
e51422
13
The role of the interactome in the maintenance of deleterious variability in human populations.
Garcia-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, Vela-Boza A, Santoyo-López J, Antiñolo G, Dopazo J.
Mol Syst Biol
10 :
2014
752
22
Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.
Kandaswamy R, Sava GP, Speedy HE, Beà S, Martín-Subero JI, Studd JB, Migliorini G, Law PJ, Puente XS, Martín-García D, Salaverria I, Gutiérrez-Abril J, López-Otín C, Catovsky D, Allan JM, Campo E, Houlston RS.
Cell Rep
16 :
2016
2061-2067
34
Allele balance bias identifies systematic genotyping errors and false disease associations.
Muyas F, Bosio M, Puig A, Susak H, Domènech L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet R, Ossowski S.
Hum Mutat
40 :
2019
115-126
12
The Identification and Interpretation of cis-Regulatory Noncoding Mutations in Cancer.
Patel MB, Wang J.
High Throughput
8 :
2018
E1
3
Deep convolutional neural networks for accurate somatic mutation detection.
Sahraeian SME, Liu R, Lau B, Podesta K, Mohiyuddin M, Lam HYK.
Nat Commun
10 :
2019
1041
37
A practical guide for mutational signature analysis in hematological malignancies.
Maura F, Degasperi A, Nadeu F, Leongamornlert D, Davies H, Moore L, Royo R, Ziccheddu B, Puente XS, Avet-Loiseau H, Campbell PJ, Nik-Zainal S, Campo E, Munshi N, Bolli N.
Nat Commun
10 :
2019
2969
86
Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.
Speedy HE, Beekman R, Chapaprieta V, Orlando G, Law PJ, Martín-García D, Gutiérrez-Abril J, Catovsky D, Beà S, Clot G, Puiggròs M, Torrents D, Puente XS, Allan JM, López-Otín C, Campo E, Houlston RS, Martín-Subero JI.
Nat Commun
10 :
2019
3615
17
The rate and spectrum of mosaic mutations during embryogenesis revealed by RNA sequencing of 49 tissues.
Muyas F, Zapata L, Guigó R, Ossowski S.
Genome Med
12 :
2020
49
12
Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.
Susak H, Serra-Saurina L, Demidov G, Rabionet R, Domènech L, Bosio M, Muyas F, Estivill X, Escaramís G, Ossowski S.
PLoS Comput Biol
17 :
2021
e1007784
2
mmsig: a fitting approach to accurately identify somatic mutational signatures in hematological malignancies.
Rustad EH, Nadeu F, Angelopoulos N, Ziccheddu B, Bolli N, Puente XS, Campo E, Landgren O, Maura F.
Commun Biol
4 :
2021
424
10
The proliferative history shapes the DNA methylome of B-cell tumors and predicts clinical outcome.
Duran-Ferrer M, Clot G, Nadeu F, Beekman R, Baumann T, Nordlund J, Marincevic-Zuniga Y, Lönnerholm G, Rivas-Delgado A, Martín S, Ordoñez R, Castellano G, Kulis M, Queirós AC, Lee ST, Wiemels J, Royo R, Puiggrós M, Lu J, Giné E, Beà S, Jares P, Agirre X, Prosper F, López-Otín C, Puente XS, Oakes CC, Zenz T, Delgado J, López-Guillermo A, Campo E, Martín-Subero JI.
Nat Cancer
1 :
2020
1066-1081
19
PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2.
Bousquets-Muñoz P, Díaz-Navarro A, Nadeu F, Sánchez-Pitiot A, López-Tamargo S, Shuai S, Balbín M, Tubio JMC, Beà S, Martin-Subero JI, Gutiérrez-Fernández A, Stein LD, Campo E, Puente XS.
NPJ Genom Med
7 :
2022
19
1
Molecular map of chronic lymphocytic leukemia and its impact on outcome.
Knisbacher BA, Lin Z, Hahn CK, Nadeu F, Duran-Ferrer M, Stevenson KE, Tausch E, Delgado J, Barbera-Mourelle A, Taylor-Weiner A, Bousquets-Muñoz P, Diaz-Navarro A, Dunford A, Anand S, Kretzmer H, Gutierrez-Abril J, López-Tamargo S, Fernandes SM, Sun C, Sivina M, Rassenti LZ, Schneider C, Li S, Parida L, Meissner A, Aguet F, Burger JA, Wiestner A, Kipps TJ, Brown JR, Hallek M, Stewart C, Neuberg DS, Martín-Subero JI, Puente XS, Stilgenbauer S, Wu CJ, Campo E, Getz G.
Nat Genet
54 :
2022
1664-1674
15
<i>SF3B1</i> mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia.
López-Oreja I, Gohr A, Playa-Albinyana H, Giró A, Arenas F, Higashi M, Tripathi R, López-Guerra M, Irimia M, Aymerich M, Valcárcel J, Bonnal S, Colomer D.
Life Sci Alliance
6 :
2023
e202301955
0
