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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is shown that de novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health, and show that large sample sizes will be required to associate rare variants with complex traits.
The accessible chromatin landscape of the human genome
The first extensive map of human DHSs identified through genome-wide profiling in 125 diverse cell and tissue types is presented, revealing novel relationships between chromatin accessibility, transcription, DNA methylation and regulatory factor occupancy patterns.
Interrogating a high-density SNP map for signatures of natural selection.
An analysis of single nucleotide polymorphisms with allele frequencies that were determined in three populations provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.
Great ape genetic diversity and population history
This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
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.
An expansive human regulatory lexicon encoded in transcription factor footprints
A stereotyped 50-base-pair footprint is identified that precisely defines the site of transcript origination within thousands of human promoters, and a large collection of novel regulatory factor recognition motifs that are highly conserved in both sequence and function are described.
Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants
The results better delimit the historical details of human protein-coding variation, show the profound effect of recent human history on the burden of deleterious SNVs segregating in contemporary populations, and provide important practical information that can be used to prioritize variants in disease-gene discovery.
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors
Analysis of regulatory variation in a cross between laboratory and wild strains of Saccharomyces cerevisiae showed that polymorphisms in GPA1 and AMN1 affect expression of genes involved in pheromone response and daughter cell separation.
An integrated encyclopedia of DNA elements in the human genome
The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.