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Article
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls,...
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Article
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with AS...
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Article
Open AccessSequencing and de novo assembly of 150 genomes from Denmark as a population reference
A report of high-depth, short-read sequencing and de novo assemblies for 150 individuals from 50 parent–offspring trios as part of establishing a population reference genome for the GenomeDenmark project.
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Article
Open AccessExperimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq
Massively parallel cDNA sequencing (RNA-seq) experiments are gradually superseding microarrays in quantitative gene expression profiling. However, many biologists are uncertain about the choice of differential...
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Article
Open AccessNovel variation and de novo mutation rates in population-wide de novo assembled Danish trios
Building a population-specific catalogue of single nucleotide variants (SNVs), indels and structural variants (SVs) with frequencies, termed a national pan-genome, is critical for further advancing clinical an...
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Article
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus
Peter Donnelly and colleagues report a genome-wide association study for Barrett's esophagus, a common premalignant condition associated with stomach acid reflux and predisposing to esophageal adenocarcinoma. ...
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Chapter
Aging and Longevity in Animal Models and Humans
How many animal models are adequate to study human aging? Aging is an adaptive process performed by an integrated panel of evolutionarily selected mechanisms aimed at maintaining soma integrity. The possibilit...
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Article
Italian biotechnologists organize
