Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

Abstract MotivationGeneticsMolecular BiologyGenomicsSequence Alignment +15

Generalized Linear Models

J. A. Nelder, R. W. M. Wedderburn

Journal of the Royal Statistical Society Series A (General)

Linear ModelsStatistical InferenceRegression AnalysisStatistical ModelingStatistics

The landscape of somatic copy-number alteration across human cancers

Rameen Beroukhim, Craig H. Mermel, Dale Porter, +59

Nature

Somatic VariantTumor HeterogeneityMedicinePathologySomatic Copy-number Alteration +5

Patterns of somatic mutation in human cancer genomes

Christopher Greenman, Philip Stephens, Raffaella Smith, +60

Nature

Somatic MutationSomatic VariantGeneticsMedicineEpigenetics

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

Kai Ye, Marcel H. Schulz, Quan Long, +2

Bioinformatics

Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor

Andreas Hörlein, Anders M. Näär, Thorsten Heinzel, +8

Nature

Signal TransductionLigand-independent RepressionEndocrine MechanismHormonal ReceptorPhysiology +10

<i>ARID1A</i> Mutations in Endometriosis-Associated Ovarian Carcinomas

Kimberly C. Wiegand, Sohrab P. Shah, Osama M. Al‐Agha, +41

New England Journal of Medicine

Allele-specific copy number analysis of tumors

Peter Van Loo, Ole Christian Lingjærde, Hege G. Russnes, +9

Proceedings of the National Academy of Sciences

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer

John D. Carpten, Andrew L. Faber, Candice L. Horn, +20

Nature

Somatic VariantMedicinePleckstrin Homology DomainCancer GeneticsSystems Biology +4