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A general framework for estimating the relative pathogenicity of human genetic variants
TLDR
The ability of CADD to prioritize functional, deleterious and pathogenic variants across many functional categories, effect sizes and genetic architectures is unmatched by any current single-annotation method. Expand
Next-generation DNA sequencing
TLDR
Next-generation DNA sequencing has the potential to dramatically accelerate biological and biomedical research, by enabling the comprehensive analysis of genomes, transcriptomes and interactomes to become inexpensive, routine and widespread, rather than requiring significant production-scale efforts. Expand
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
TLDR
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. Expand
The contribution of de novo coding mutations to autism spectrum disorder
TLDR
It is estimated that LGD mutation in about 400 genes can contribute to the joint class of affected females and males of lower IQ, with an overlapping and similar number of genes vulnerable to contributory missense mutation. Expand
The complete genome sequence of a Neanderthal from the Altai Mountains
Kay Prüfer, Fernando Racimo, Nick Patterson, Flora Jay, Sriram Sankararaman, Susanna Sawyer, Anja Heinze, Gabriel Renaud, Peter H. Sudmant, Cesare de Filippo, Heng Li, Swapan Mallick, MichaelExpand
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
TLDR
The genomic sequence provides evidence for very low rates of heterozygosity in the Denisova, probably not because of recent inbreeding, but instead because of a small population size, and illuminates the relationships between humans and archaics, including Neandertals, and establishes a catalog of genetic changes within the human lineage. Expand
Targeted capture and massively parallel sequencing of 12 human exomes
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for aExpand
A Three-Dimensional Model of the Yeast Genome
TLDR
A method to globally capture intra- and inter-chromosomal interactions is developed and applied to generate a map at kilobase resolution of the haploid genome of Saccharomyces cerevisiae, which recapitulates known features of genome organization, thereby validating the method, and identifies new features. Expand
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
TLDR
Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four and demonstrate the value of complete genome sequencing in families. Expand
Exome sequencing as a tool for Mendelian disease gene discovery
TLDR
Experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders and set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling. Expand
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