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Transcriptional activity and strain-specific history of mouse pseudogenes
Pseudogenes are ideal markers of genome remodelling. In turn, the mouse is an ideal platform for studying them, particularly with the recent...
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Integration of genomics, metagenomics, and metabolomics to identify interplay between susceptibility alleles and microbiota in adenoma initiation
BackgroundColorectal cancer (CRC) is a multifactorial disease resulting from both genetic predisposition and environmental factors including the gut...
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Leveraging European infrastructures to access 1 million human genomes by 2022
Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in...
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Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022
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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A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity
ZIC2 mutation is known to cause holoprosencephaly (HPE). A subset of ZIC2 HPE probands harbour cardiovascular and visceral anomalies suggestive of...
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Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
In the supplementary information PDF originally posted, there were discrepancies from the integrated supplementary information that appeared in the...
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De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms
Long-read sequencing technologies such as Pacific Biosciences and Oxford Nanopore MinION are capable of producing long sequencing reads with average...
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Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
The formation of the vertebrate brain requires the generation, migration, differentiation and survival of neurons. Genetic mutations that perturb...
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Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci
We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation....
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Deep genome sequencing and variation analysis of 13 inbred mouse strains defines candidate phenotypic alleles, private variation and homozygous truncating mutations
BackgroundThe Mouse Genomes Project is an ongoing collaborative effort to sequence the genomes of the common laboratory mouse strains. In 2011, the...
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Genome-wide genetic screening with chemically mutagenized haploid embryonic stem cells
In model organisms, classical genetic screening via random mutagenesis provides key insights into the molecular bases of genetic interactions,...
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The Mouse Genomes Project: a repository of inbred laboratory mouse strain genomes
The Mouse Genomes Project was initiated in 2009 with the goal of using next-generation sequencing technologies to catalogue molecular variation in...
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RNA-seq reveals the pan-transcriptomic impact of attenuating the gliotoxin self-protection mechanism in Aspergillus fumigatus
BackgroundAspergillus fumigatus produces a number of secondary metabolites, one of which, gliotoxin, has been shown to exhibit anti-fungal activity....
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The mutational landscapes of genetic and chemical models of Kras-driven lung cancer
Next-generation sequencing of human tumours has refined our understanding of the mutational processes operative in cancer initiation and progression,...
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Go retro and get a GRIP
Gene retrocopy insertions are a source of new genes and new gene functions, and can now be identified using paired-end whole genome sequencing data.
Se...
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A global reference for human genetic variation
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a...
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POT1 loss-of-function variants predispose to familial melanoma
Deleterious germline variants in CDKN2A account for around 40% of familial melanoma cases
1 , and rare variants in CDK4 , BRCA2 , BAP1 and the promoter... -
Next-generation sequencing of experimental mouse strains
Since the turn of the century the complete genome sequence of just one mouse strain, C57BL/6J, has been available. Knowing the sequence of this...