Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch, +39

Nature

MedicineGeneticsGenome AnalysisGenetic VariationGenomics +3

Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera, +5

Nature Genetics

MedicineGeneticsComputational GenomicsStatistical GeneticsGenome Analysis +6

Origins and functional impact of copy number variation in the human genome

Donald F. Conrad, Dalila Pinto, Richard Redon, +24

Nature

Genome StudyMedicineGeneticsEvolutionary BiologyGenome Structure +7

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent, +31

The American Journal of Human Genetics

ChromatinStructural VariationSyndromic AutismGeneticsMolecular Biology +3

The Diploid Genome Sequence of an Individual Human

Samuel Lévy, Granger Sutton, Pauline C. Ng, +28

PLoS Biology

The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen, +2

Nucleic Acids Research

Structural VariationEngineeringGeneticsDatabasesGenomics +17

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Dalila Pinto, Katayoon Darvishi, Xinghua Shi, +19

Nature Biotechnology

Hardware SecurityComprehensive AssessmentEngineeringContent Similarity DetectionData Science +8

Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma

Paul A. Northcott, Yukiko Nakahara, Xiaochong Wu, +24

Nature Genetics

Histone ModificationsChromatinHistone Lysine MethylationChromatin RemodelingGenetic Disorder +9

Towards a comprehensive structural variation map of an individual human genome

Andy Wing Chun Pang, Jeffrey R. MacDonald, Dalila Pinto, +11

Genome biology

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

Adam Ameur, Ammar Zaghlool, Jonatan Halvardson, +4

Nature Structural & Molecular Biology

Widespread Co-transcriptional SplicingTranscriptional RegulationGeneticsRna SplicingRna Sequencing +6