References
Primary Study
Ljungström V, Cortese D, Young E, Pandzic T, Mansouri L, Plevova K, Ntoufa S, Baliakas P, Clifford R, Sutton LA, Blakemore S, Stavroyianni N, Sutton R, Agathangelidis A, Ljungström V, Stamatopoulos K, Pospisilova S, Davis Z, Oscier D, Stankovic T, Rosenquist R. Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood. 2016 Aug 18;128(7):791–801. DOI: 10.1182/blood-2016-05-716977 PMID: 27301886
Supporting Literature
Landau DA, Tausch E, Taylor-Weiner AN, Stewart C, Reiter JG, Bahlo J, Kluth S, Bozic I, Lawrence M, Böttcher S, Carter SL, Cibulskis K, McKenna A, Hanna M, Aguet F, Saksena G, Gabriel S, Onofrio R, Koche R, Zhang L, Jäger U, Rosenwald A, Müller-Hermelink HK, Stauch M, Kreuzer KA, Döhner H, Bullinger L, Döhner K, Hallek M, Neuberg D, Getz G, Stilgenbauer S, Wu CJ. Mutations driving CLL and their evolution in progression and relapse. Nature. 2015 Apr 9;526(7574):525–530. DOI: 10.1038/nature15395 PMID: 26466571
Puente XS, Bea S, Valdes-Mas R, Villamor N, Gutierrez-Abril J, Martin-Subero JI, Munoz C, Jares P, Aymerich M, Lopez-Guillermo A, et al. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature. 2015 Apr 9;526(7574):519–524. DOI: 10.1038/nature14666 PMID: 26200345
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, Ramsay AJ, Bea S, Pinyol M, Martínez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, Rozman M, Delgado J, Giné E, Hernández JM, González-Díaz M, Puente DA, López-Otín C, Campo E. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2011 Oct 30;44(1):47–52. DOI: 10.1038/ng.1032 PMID: 22158541
Databases and Resources
gnomAD – Genome Aggregation Database: population germline variant frequencies. https://gnomad.broadinstitute.org/
ClinVar – Public archive of relationships among human variations and phenotypes. https://www.ncbi.nlm.nih.gov/clinvar/
COSMIC – Catalogue Of Somatic Mutations In Cancer. https://cancer.sanger.ac.uk/cosmic
VEP – Ensembl Variant Effect Predictor. https://www.ensembl.org/info/docs/tools/vep/index.html
CNVkit – Copy number variant detection from targeted DNA sequencing. https://cnvkit.readthedocs.io/en/stable/