22 Result(s)
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Open AccessAuthor Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology
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Open AccessNasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology
To identify genetic determinants of airway dysfunction, we performed a transcriptome-wide association study for asthma by combining RNA-seq data from the nasal airway epithelium of 681 children, with UK Bioban...
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Open AccessSequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treat...
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Open AccessType 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium
Coronavirus disease 2019 (COVID-19) is caused by SARS-CoV-2, an emerging virus that utilizes host proteins ACE2 and TMPRSS2 as entry factors. Understanding the factors affecting the pattern and levels of expre...
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Map** and characterization of structural variation in 17,795 human genomes
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural v...
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Open AccessDeep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms
To test the performance of a new sequencing platform, develop an updated somatic calling pipeline and establish a reference for future benchmarking experiments, we performed whole-genome sequencing of 3 common...
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Open AccessFunctional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects
Hundreds of thousands of human whole genome sequencing (WGS) datasets will be generated over the next few years. These data are more valuable in aggregate: joint analysis of genomes from many sources increases...
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Open AccessThe genomic basis of adaptive evolution in threespine sticklebacks
Marine stickleback fish have colonized and adapted to thousands of streams and lakes formed since the last ice age, providing an exceptional opportunity to characterize genomic mechanisms underlying repeated e...
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Open AccessA high-resolution map of human evolutionary constraint using 29 mammals
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the ...
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Open AccessWhole-genome resequencing reveals loci under selection during chicken domestication
The domestication of the chicken over a period of several thousand years and its later specialization into meat producing (broiler) and egg producing (layer) lines is an informative model of domestication and ...
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Open AccessGenome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans
The genome of Phytophthora infestans, the pathogen that triggered the Irish potato famine in the nineteenth century, has been sequenced. It remains a devastating pathogen, with late blight destroying crops worth ...
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Somatic mutations affect key pathways in lung adenocarcinoma
Determining the genetic basis of cancer requires comprehensive analyses of large collections of histopathologically well-classified primary tumours. Here we report the results of a collaborative study to disco...
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Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences
We report a high-quality draft of the genome sequence of the grey, short-tailed opossum (Monodelphis domestica). As the first metatherian (‘marsupial’) species to be sequenced, the opossum provides a unique persp...
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DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
Work on the human genome has reached the stage where there are only a few more chromosomes for which detailed sequence analysis remains to be published. The analysis of chromosome 17 is published this week. In...
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Human chromosome 11 DNA sequence and analysis including novel gene identification
Chromosome 11, although average in size, is one of the most gene- and disease-rich chromosomes in the human genome. Initial gene annotation indicates an average gene density of 11.6 genes per megabase, includi...
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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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DNA sequence and analysis of human chromosome 8
The finished sequence for human chromosome 8 is now published. It features a 15-megabase stretch that has a much greater mutation rate in hominids than the corresponding region in other mammals. Included in th...
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Correction: Corrigendum: DNA sequence and analysis of human chromosome 18
Nature 437, 551–555 (2005) doi:10.1038/nature03983 The name of Keith O'Neill was accidentally omitted from the published author list. He is at the first affiliation in the address list.
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Genome sequence, comparative analysis and haplotype structure of the domestic dog
Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest bec...
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DNA sequence and analysis of human chromosome 18
The sequence of human chromosome 18, which has the lowest gene density of any human chromosome, is now complete. Surprisingly, the proportion of non-protein-coding regions evolutionarily conserved among mammal...
