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Article
Open AccessTowards complete and error-free genome assemblies of all vertebrate species
High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few n...
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Article
Open AccessPlatypus and echidna genomes reveal mammalian biology and evolution
Egg-laying mammals (monotremes) are the only extant mammalian outgroup to therians (marsupial and eutherian animals) and provide key insights into mammalian evolution1,2. Here we generate and analyse reference ge...
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Article
Open AccessChromosome-level assembly reveals extensive rearrangement in saker falcon and budgerigar, but not ostrich, genomes
The number of de novo genome sequence assemblies is increasing exponentially; however, relatively few contain one scaffold/contig per chromosome. Such assemblies are essential for studies of genotype-to-phenot...
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Article
Open AccessReconstruction of avian ancestral karyotypes reveals differences in the evolutionary history of macro- and microchromosomes
Reconstruction of ancestral karyotypes is critical for our understanding of genome evolution, allowing for the identification of the gross changes that shaped extant genomes. The identification of such changes...
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Article
Open AccessReconstruction of the diapsid ancestral genome permits chromosome evolution tracing in avian and non-avian dinosaurs
Genomic organisation of extinct lineages can be inferred from extant chromosome-level genome assemblies. Here, we apply bioinformatic and molecular cytogenetic approaches to determine the genomic structure of ...
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Article
Open AccessDigital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions
Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders and have also been implicated in a broad collection of conditions, including aging, neurodegeneration and cancer. Preva...
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Article
Open AccessAssociation of G-quadruplex forming sequences with human mtDNA deletion breakpoints
Mitochondrial DNA (mtDNA) deletions cause disease and accumulate during aging, yet our understanding of the molecular mechanisms underlying their formation remains rudimentary. Guanine-quadruplex (GQ) DNA stru...
