38 Result(s)
within
Science, Humanities and Social Sciences, multidisciplinary
Science, Humanities and Social Sciences, multidisciplinary
Evan E Eichler
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Article
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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Article
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
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...
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Article
Open AccessInsights into hominid evolution from the gorilla genome sequence
Gorillas are humans’ closest living relatives after chimpanzees, and are of comparable importance for the study of human origins and evolution. Here we present the assembly and analysis of a genome sequence fo...
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Open AccessThe bonobo genome compared with the chimpanzee and human genomes
Sequencing of the bonobo genome shows that more than three per cent of the human genome is more closely related to either the bonobo genome or the chimpanzee genome than those genomes are to each other.
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Open AccessGreat ape genetic diversity and population history
High-coverage sequencing of 79 (wild and captive) individuals representing all six non-human great ape species has identified over 88 million single nucleotide polymorphisms providing insight into ape genetic ...
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Article
Open AccessGibbon genome and the fast karyotype evolution of small apes
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys and great apes. Here we prese...
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Article
Open AccessA comparative encyclopedia of DNA elements in the mouse genome
The laboratory mouse shares the majority of its protein-coding genes with humans, making it the premier model organism in biomedical research, yet the two mammals differ in significant ways. To gain greater in...
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Open AccessAn integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising bo...
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Open AccessLong-read sequencing and de novo assembly of a Chinese genome
Short-read sequencing has enabled the de novo assembly of several individual human genomes, but with inherent limitations in characterizing repeat elements. Here we sequence a Chinese individual HX1 by single-mol...
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Article
Open AccessA high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of ...
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Article
Open AccessDe novo genic mutations among a Chinese autism spectrum disorder cohort
Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk ...
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Article
Open AccessEpigenetic origin of evolutionary novel centromeres
Most evolutionary new centromeres (ENC) are composed of large arrays of satellite DNA and surrounded by segmental duplications. However, the hypothesis is that ENCs are seeded in an anonymous sequence and only...
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Article
Open AccessThe caterpillar fungus, Ophiocordyceps sinensis, genome provides insights into highland adaptation of fungal pathogenicity
To understand the potential genetic basis of highland adaptation of fungal pathogenicity, we present here the ~116 Mb de novo assembled high-quality genome of Ophiocordyceps sinensis endemic to the Qinghai-Tibeta...
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Open AccessMulti-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, ...
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Article
Open AccessAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional ed...
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Article
Open AccessLong-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants
We present a high-quality de novo genome assembly (rheMacS) of the Chinese rhesus macaque (Macaca mulatta) using long-read sequencing and multiplatform scaffolding approaches. Compared to the current Indian rhesu...
