Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 65,568 bioRxiv papers from 290,397 authors.

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Preprints

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

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Analysis of protein-coding genetic variation in 60,706 humans

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MutPred2: inferring the molecular and phenotypic impact of amino acid variants

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AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

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  • In genetics: 267 out of 3,702
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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

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AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

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S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

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Developmental gene expression differences between humans and mammalian models

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First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

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RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

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Genetic analysis of the STIM1 gene in chronic pancreatitis

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5' splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

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