38 Result(s)
within
Evan E Eichler
Science, Humanities and Social Sciences, multidisciplinary
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Article
Open AccessThe complete sequence and comparative analysis of ape sex chromosomes
Apes possess two sex chromosomes—the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked ...
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Open AccessThe variation and evolution of complete human centromeres
Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size1. As a result, patterns of human centromeric variation and models for their evolut...
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Article
Open AccessTAD evolutionary and functional characterization reveals diversity in mammalian TAD boundary properties and function
Topological associating domains (TADs) are self-interacting genomic units crucial for sha** gene regulation patterns. Despite their importance, the extent of their evolutionary conservation and its functiona...
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Open AccessIncreased mutation and gene conversion within human segmental duplications
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of map** short-read sequencing data1,2. Here we constructed 1:1 unambiguous ali...
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Open AccessA draft human pangenome reference
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These...
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Open AccessSemi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society1,2. However, it still has many gaps and errors, and does not repres...
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Open AccessAuthor Correction: Comparative and demographic analysis of orang-utan genomes
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Article
The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a si...
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Open AccessSingle-cell epigenomics reveals mechanisms of human cortical development
During mammalian development, differences in chromatin state coincide with cellular differentiation and reflect changes in the gene regulatory landscape1. In the develo** brain, cell fate specification and topo...
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Open AccessEvidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans
TRP channel-associated factor 1/2 (TCAF1/TCAF2) proteins antagonistically regulate the cold-sensor protein TRPM8 in multiple human tissues. Understanding their significance has been complicated given the locus...
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Open AccessA high-quality bonobo genome refines the analysis of hominid evolution
The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation1,2. Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without gui...
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Open AccessThe structure, function and evolution of a complete human chromosome 8
The complete assembly of each human chromosome is essential for understanding human biology and evolution1,2. Here we use complementary long-read sequencing technologies to complete the linear assembly of human c...
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Open AccessExtended haplotype-phasing of long-read de novo genome assemblies using Hi-C
Haplotype-resolved genome assemblies are important for understanding how combinations of variants impact phenotypes. To date, these assemblies have been best created with complex protocols, such as cultured ce...
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Article
Open AccessAuthor Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, w...
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Article
Open AccessTelomere-to-telomere assembly of a complete human X chromosome
After two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no single chromosome has been finished end to end, and...
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Article
Open AccessRare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 u...
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Open AccessDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely ...
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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...
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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...
