Inversion variants in human and primate genomes

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Estimating the total number of phosphoproteins and phosphorylation sites in eukaryotic proteomes

(2017) Panayotis Vlastaridis et al.   GigaScience

Characterizing polymorphic inversions in human genomes by single-cell sequencing

(2016) Ashley D. Sanders et al.   GENOME RESEARCH

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

(2016) Xander Nuttle et al.   NATURE

Long-read sequence assembly of the gorilla genome

(2016) D. Gordon et al.   SCIENCE

A new rhesus macaque assembly and annotation for next-generation sequencing analyses

(2014) Aleksey V Zimin et al.   Biology Direct

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

Gibbon genome and the fast karyotype evolution of small apes

(2014) Lucia Carbone et al.   NATURE

Evolution and diversity of copy number variation in the great ape lineage

(2013) P. H. Sudmant et al.   GENOME RESEARCH

A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons

(2012) O. Capozzi et al.   GENOME RESEARCH

Recombination Rates and Genomic Shuffling in Human and Chimpanzee—A New Twist in the Chromosomal Speciation Theory

(2012) Marta Farré et al.   MOLECULAR BIOLOGY AND EVOLUTION

Insights into hominid evolution from the gorilla genome sequence

(2012) Aylwyn Scally et al.   NATURE

Structural diversity and African origin of the 17q21.31 inversion polymorphism

(2012) Karyn Meltz Steinberg et al.   NATURE GENETICS

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication

(2012) Maria Cardone et al.   GENOME BIOLOGY

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

(2011) M. Ventura et al.   GENOME RESEARCH

Comparative and demographic analysis of orang-utan genomes

(2011) Devin P. Locke et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

InterPro in 2011: new developments in the family and domain prediction database

(2011) S. Hunter et al.   NUCLEIC ACIDS RESEARCH

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

A burst of segmental duplications in the genome of the African great ape ancestor

(2009) Tomas Marques-Bonet et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

The genomic basis of the Williams – Beuren syndrome

(2008) C. Schubert   CELLULAR AND MOLECULAR LIFE SCIENCES

Molecular mechanisms of chromosomal rearrangement during primate evolution

(2008) Hildegard Kehrer-Sawatzki et al.   CHROMOSOME RESEARCH

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

(2008) R. Stanyon et al.   CHROMOSOME RESEARCH

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Evolutionary toggling of the MAPT 17q21.31 inversion region

(2008) Michael C Zody et al.   NATURE GENETICS

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study

(2008) J. E. Tobin et al.   NEUROLOGY