Barcode-free next-generation sequencing error validation for ultra-rare variant detection
نویسندگان
چکیده
منابع مشابه
Detection of ultra-rare mutations by next-generation sequencing.
Next-generation DNA sequencing promises to revolutionize clinical medicine and basic research. However, while this technology has the capacity to generate hundreds of billions of nucleotides of DNA sequence in a single experiment, the error rate of ~1% results in hundreds of millions of sequencing mistakes. These scattered errors can be tolerated in some applications but become extremely proble...
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MOTIVATION Next-generation sequencing technology is increasingly being used for clinical diagnostic tests. Clinical samples are often genomically heterogeneous due to low sample purity or the presence of genetic subpopulations. Therefore, a variant calling algorithm for calling low-frequency polymorphisms in heterogeneous samples is needed. RESULTS We present a novel variant calling algorithm...
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We describe a method for pooling and sequencing DNA from a large number of individual samples while preserving information regarding sample identity. DNA from 576 individuals was arranged into four 12 row by 12 column matrices and then pooled by row and by column resulting in 96 total pools with 12 individuals in each pool. Pooling of DNA was carried out in a two-dimensional fashion, such that ...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2019
ISSN: 2041-1723
DOI: 10.1038/s41467-019-08941-4