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SnpEff & SnpSift Genomic Variant Annotation Databases

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aws亚马逊开源数据集2025-11-22 收录
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https://registry.opendata.aws/snpeff
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SnpEff is a variant annotation and effect prediction tool that annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes). It supports over 38,000 genomes and provides comprehensive genomic databases for variant annotation. The databases include reference genomes, gene annotations, protein sequences, and regulatory elements from trusted sources like ENSEMBL, RefSeq, and UCSC. SnpSift complements SnpEff by providing tools to annotate genomic variants using databases, filter large genomic datasets, and manipulate annotated variants. Together, these ...
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Pablo Cingolani
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