Improved noninvasive fetal variant calling using standardized benchmarking approaches
نویسندگان
چکیده
منابع مشابه
SMaSH: a benchmarking toolkit for human genome variant calling
MOTIVATION Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human sequencing data disagree on many of their predictions, and current methods to evaluate accuracy and computational performance are ad hoc and in...
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Summary: To evaluate and compare the performance of variant calling methods and their confidence scores, comparisons between a test call set and a “gold standard” need to be carried out. Unfortunately, these comparisons are not straightforward with the current Variant Call Files (VCF), which are the standard output of most variant calling algorithms for high-throughput sequencing data. Comparis...
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Given the current cost-effectiveness of next-generation sequencing, the amount of DNA-seq and RNA-seq data generated is ever increasing. One of the primary objectives of NGS experiments is calling genetic variants. While highly accurate, most variant calling pipelines are not optimized to run efficiently on large data sets. However, as variant calling in genomic data has become common practice,...
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ژورنال
عنوان ژورنال: Computational and Structural Biotechnology Journal
سال: 2021
ISSN: 2001-0370
DOI: 10.1016/j.csbj.2020.12.032