References
==========

Primary Study
-------------

1. 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 <https://doi.org/10.1182/blood-2016-05-716977>`__  
   PMID: `27301886 <https://pubmed.ncbi.nlm.nih.gov/27301886/>`__

Supporting Literature
---------------------

2. 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 <https://doi.org/10.1038/nature15395>`__  
   PMID: `26466571 <https://pubmed.ncbi.nlm.nih.gov/26466571/>`__

3. 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 <https://doi.org/10.1038/nature14666>`__  
   PMID: `26200345 <https://pubmed.ncbi.nlm.nih.gov/26200345/>`__

4. 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 <https://doi.org/10.1038/ng.1032>`__  
   PMID: `22158541 <https://pubmed.ncbi.nlm.nih.gov/22158541/>`__

Databases and Resources
-----------------------

- **gnomAD** – Genome Aggregation Database: population germline variant frequencies.  
  `https://gnomad.broadinstitute.org/ <https://gnomad.broadinstitute.org/>`__

- **ClinVar** – Public archive of relationships among human variations and phenotypes.  
  `https://www.ncbi.nlm.nih.gov/clinvar/ <https://www.ncbi.nlm.nih.gov/clinvar/>`__

- **COSMIC** – Catalogue Of Somatic Mutations In Cancer.  
  `https://cancer.sanger.ac.uk/cosmic <https://cancer.sanger.ac.uk/cosmic>`__

- **VEP** – Ensembl Variant Effect Predictor.  
  `https://www.ensembl.org/info/docs/tools/vep/index.html <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/ <https://cnvkit.readthedocs.io/en/stable/>`__