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VariantMetaCaller combines the results of multiple variant callers based on their statistical properties described earlier.
For this task, we presented VariantMetaCaller, which utilizes the high-dimensional annotation information by fusion from multiple variant callers.
Automated fusion of multiple variant callers has been seen as a promising direction to exploit hidden information with more advanced statistical models.
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A high agreement of different callers (i.e. a high percentage of SNPs detected by different callers simultaneously) with each other in terms of called variants, is an advantage if whole-genome sequencing data is handled in a way like O'Rawe [ 18] suggested, namely using only the variants discovered by multiple variants callers or pipelines for further analyses.
The method of the Exome Sequencing Project was not developed to utilize the combination of multiple variant-callers, and it determines annotation value cutoffs for defining negative training examples and gold standard data sets for defining positive training examples [ 14].
Most currently available structural variant callers employ multiple passes through the entire input file, requiring substantial memory and computation time.
Briefly, the NIST-GIB high-confidence call-set (GIBv2.18, 16 December 2013) [ 27] is restricted to high-confidence regions of the genome based on arbitration of SNV, InDel, and homozygous reference genotype calls among multiple sequencing platforms, aligners, and variant callers.
The performance of mutation detection in BRCA1 and BRCA2 using multiple combinations of read mappers and variant callers was evaluated in six germ-line DNA samples (Table 1).
It integrates multiple alignment algorithms and multiple variant calling software tools and gives user the flexibility to choose their preferred aligners and variant callers, and enables generation of consensus calls from multiple calling algorithms to improve reliability.
To further improve the sensitivity of the pipeline, one can use multiple variant calling methods, as it is a well-known fact that different callers produce different results [ 1, 3– 7].
Several variant callers based on different algorithms have emerged using single or multiple samples simultaneously, e.g. SAMtools [ 15] or GATK [ 16].
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