Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,747 bioRxiv papers from 278,434 authors.

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Preprints

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

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Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at ADCY7

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New mutations, old statistical challenges

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Association mapping of inflammatory bowel disease loci to single variant resolution

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De novo mutations in regulatory elements cause neurodevelopmental disorders

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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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Quantifying the contribution of recessive coding variation to developmental disorders

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Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

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Pathogenicity and selective constraint on variation near splice sites

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HLA-DQA1*05 is associated with the development of antibodies to anti-TNF therapy

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Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

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Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disorders

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Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations

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Designing an intuitive web application for drug discovery scientists

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Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis

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Exome sequencing and genotyping identify a rare variant in NLRP7 gene associated with ulcerative colitis.

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