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GCparagon: evaluating and correcting GC biases in cell-free DNA at the fragment level
Download from doi.orgAberrant phase separation and nucleolar dysfunction in rare genetic diseases
UploadCADD: predicting the deleteriousness of variants throughout the human genome
Download from doi.orgExpanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Download from www.researchgate.netAncient gene flow from early modern humans into Eastern Neanderthals
Download from www.nature.comThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Download from www.ncbi.nlm.nih.govAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Download from www.biorxiv.orgExome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders
Download from doi.orgEvaluating intra- and inter-individual variation in the human placental transcriptome
Download from link.springer.comSomatic Mutations in Cerebral Cortical Malformations
Download from europepmc.orgPatterns of coding variation in the complete exomes of three Neandertals
Download from doi.orgThe complete genome sequence of a Neanderthal from the Altai Mountains
Download from www.nature.comMosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Download from www.ncbi.nlm.nih.govfreeIbis: an efficient basecaller with calibrated quality scores for Illumina sequencers
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