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Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
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Genetic characterization of a captive marmoset (Callithrix jacchus) colony using genotype-by-sequencing.
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Prognostic analysis and risk assessment based on RNA editing in hepatocellular carcinoma.
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Reekeekee- and roodoodooviruses, two different clades constituted by the smallest DNA phages.
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Genome interpretation using in silico predictors of variant impact.
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Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.
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本文引用的文献

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A map of human genome variation from population-scale sequencing.
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MutationTaster evaluates disease-causing potential of sequence alterations.
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Discovery and characterization of chromatin states for systematic annotation of the human genome.
Nat Biotechnol. 2010 Aug;28(8):817-25. doi: 10.1038/nbt.1662. Epub 2010 Jul 25.
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Genetic heterogeneity in human disease.
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Heritable individual-specific and allele-specific chromatin signatures in humans.
Science. 2010 Apr 9;328(5975):235-9. doi: 10.1126/science.1184655. Epub 2010 Mar 18.
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Bioinformatic tools for identifying disease gene and SNP candidates.
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Complete Khoisan and Bantu genomes from southern Africa.
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Genomic features defining exonic variants that modulate splicing.
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Prioritizing GWAS results: A review of statistical methods and recommendations for their application.
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ENCODE whole-genome data in the UCSC Genome Browser.
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