62 Result(s)
within
Evan E Eichler
English
Science, Humanities and Social Sciences, multidisciplinary
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Article
Positive selection of a gene family during the emergence of humans and African apes
Gene duplication followed by adaptive evolution is one of the primary forces for the emergence of new gene function1. Here we describe the recent proliferation, transposition and selection of a 20-kilobase (kb) d...
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Article
The DNA sequence of human chromosome 7
Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated wi...
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The DNA sequence and biology of human chromosome 19
Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high G + C content, CpG islands and density of re...
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Article
The structure and evolution of centromeric transition regions within the human genome
An understanding of how centromeric transition regions are organized is a critical aspect of chromosome structure and function; however, the sequence context of these regions has been difficult to resolve on t...
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The DNA sequence and comparative analysis of human chromosome 5
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions ...
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Article
Shotgun sequence assembly and recent segmental duplications within the human genome
Complex eukaryotic genomes are now being sequenced at an accelerated pace primarily using whole-genome shotgun (WGS) sequence assembly approaches. WGS assembly was initially criticized because of its perceived...
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The sequence and analysis of duplication-rich human chromosome 16
Human chromosome 16 features one of the highest levels of segmentally duplicated sequence among the human autosomes. We report here the 78,884,754 base pairs of finished chromosome 16 sequence, representing ov...
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Generation and annotation of the DNA sequences of human chromosomes 2 and 4
Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the sea...
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A genome-wide comparison of recent chimpanzee and human segmental duplications
We present a global comparison of differences in content of segmental duplication between human and chimpanzee, and determine that 33% of human duplications (> 94% sequence identity) are not duplicated in chim...
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Analysis of the DNA sequence and duplication history of human chromosome 15
Analysis of human chromosome 15 shows it to be highly segmentally duplicated. The duplications are unusual in that they are clustered in two distinct regions, rather than distributed all along the chromosome. ...
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Map** and sequencing of structural variation from eight human genomes
Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale...
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Erratum: Genome analysis of the platypus reveals unique signatures of evolution
Nature 453, 175–183 (2008) In this Article, Mikhail Nefedov and Pieter J. de Jong were omitted from the author list.
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A burst of segmental duplications in the genome of the African great ape ancestor
With four primate genome sequences now available — macaque, orang-utan, chimpanzee and human — it has become possible to construct a comparative segmental duplication map of four primate genomes. This has now ...
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Erratum: A burst of segmental duplications in the genome of the African great ape ancestor
Nature 457, 877–881 (2009) In this Letter, Lynne V. Nazareth, Donna M. Muzny and Richard A. Gibbs were inadvertently omitted from the author list.
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Article
Targeted capture and massively parallel sequencing of 12 human exomes
DNA sequencing costs have fallen dramatically in recent years, but they are still too high for whole-genome sequencing to be used routinely to identify rare and novel variants in large cohorts. Here Ng et al. dem...
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Article
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases, but most confer quite small increments of risk. There seems to be a large component of herit...
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Article
Open AccessComplete Khoisan and Bantu genomes from southern Africa
The complete genome sequences of an indigenous hunter-gatherer from Namibia's Kalahari Desert and of a Bantu from South Africa are presented in this issue, together with protein-coding regions from three other...
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Article
Open AccessThe genome of a songbird
The genome of the zebra finch — a songbird and a model for the study of vertebrate brain, behaviour and evolution — has been sequenced. Its comparison with the chicken genome, the only other bird genome availa...
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Article
Open AccessGenetic history of an archaic hominin group from Denisova Cave in Siberia
Using DNA extracted from a finger bone found in Denisova Cave in southern Siberia, we have sequenced the genome of an archaic hominin to about 1.9-fold coverage. This individual is from a group that shares a c...
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Article
Open AccessComparative and demographic analysis of orang-utan genomes
The genome of the Southeast Asian great ape or orang-utan has been sequenced — specifically a draft assembly of a Sumatran female individual and short-read sequence data from five further Sumatran and five Bor...
