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An integrated map of structural variation in 2,504 human genomes
An integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations are described.
The impact of retrotransposons on human genome evolution
This Review focuses on non-long terminal repeat (LTR) retrotransposons, and discusses the many ways that they affect the human genome: from generating insertion mutations and genomic instability to altering gene expression and contributing to genetic innovation.
Alu repeats and human genomic diversity
During the past 65 million years, Alu elements have propagated to more than one million copies in primate genomes, which has resulted in the generation of a series of Alu subfamilies of different…
Mapping copy number variation by population scale genome sequencing
A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.
Estimating African American admixture proportions by use of population-specific alleles.
Significant nonrandom association between two markers located 22 cM apart (FY-null and AT3) is detected, most likely due to admixture linkage disequilibrium created in the interbreeding of the two parental populations, emphasize the importance of admixed populations as a useful resource for mapping traits with different prevalence in two parental population.
The genome of a songbird
This work shows that song behaviour engages gene regulatory networks in the zebra finch brain, altering the expression of long non-coding RNAs, microRNAs, transcription factors and their targets and shows evidence for rapid molecular evolution in the songbird lineage of genes that are regulated during song experience.
Alu repeats and human disease.
Between these different mechanisms, Alu elements have not only contributed a great deal to the evolution of the genome but also continue to contribute to a significant portion of human genetic diseases.
SVA elements: a hominid-specific retroposon family.
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
The genome sequence of an Indian-origin Macaca mulatta female is determined and compared with chimpanzees and humans to reveal the structure of ancestral primate genomes and to identify evidence for positive selection and lineage-specific expansions and contractions of gene families.
Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa.
The results support the African origin of modern humans in that an earlier expansion of the ancestors of African populations is indicated.