Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

The Sequence Alignment/Map format and SAMtools

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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A global reference for human genetic variation

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Age-related clonal hematopoiesis associated with adverse outcomes

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Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

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Accurate whole human genome sequencing using reversible terminator chemistry

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Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

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ClinVar: public archive of relationships among sequence variation and human phenotype

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A double-blind, placebo-controlled trial of ruxolitinib for myelofibrosis

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Frequent pathway mutations of splicing machinery in myelodysplasia

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Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

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Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

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Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts

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Small-molecule MDM2 antagonists reveal aberrant p53 signaling in cancer: implications for therapy

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MAP Kinase Pathway Alterations in BRAF -Mutant Melanoma Patients with Acquired Resistance to Combined RAF/MEK Inhibition

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Targeting p53 in Vivo: A First-in-Human Study With p53-Targeting Compound APR-246 in Refractory Hematologic Malignancies and Prostate Cancer

Lehmann, S., Bykov, V. J. N., Ali, D., Andrén, O., Cherif, H., Tidefelt, U., Uggla, B., Yachnin, J., Juliusson, G., Moshfegh, A., et al. (2012) · Journal of Clinical Oncology · doi:10.1200/jco.2011.40.7783 · Cited by 406

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

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Reproducibility: The risks of the replication drive

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Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

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Development of tumor mutation burden as an immunotherapy biomarker: utility for the oncology clinic

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Human primary liver cancer–derived organoid cultures for disease modeling and drug screening

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Clinical Metagenomic Sequencing for Diagnosis of Meningitis and Encephalitis

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Circulating tumor DNA analysis in patients with cancer: American Society of Clinical Oncology and College of American Pathologists joint review

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ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer: A report from the ESMO Precision Medicine Working Group

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