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We use the Genome Analysis Tookit's version 1.0.2885 "DepthOfCoverage" to determine average coverage over specified intervals and utilize the histogram output to calculate the percent of bases reaching various coverage thresholds.
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SNP and InDel calling was performed using the Genome Analysis Toolkit (GATK, version 2.4-9 52.
SNP calling was subsequently performed using the genome analysis toolkit Unified Genotyper (GATK-UG) algorithm (DePristo et al. 2011).
SNP calling was based on alignment using the Genome Analysis Toolkit 2.0-35 2.0-35 and Picard packaGATK1.71 [ 16].
Determination of heterozygous positions between alleles was performed using the genome analysis toolkit (GATK) Unified Genotyper (31).
Sequence realignment around insertion/deletions (INDEL) and variant calling was done using the Genome Analysis Toolkit v1.6.
Base quality score recalibration was performed using the Genome Analysis ToolKit (GATK) [ 18] and QC Failure reads were removed.
Single nucleotide variants (SNVs) were multi-sampled called using the Genome Analysis Toolkit (GATK) v2.7.2 UnifiedGenotyper (DePristo et al., 2011 ).
Quality scores were re-calibrated using the Genome Analysis Toolkit v1.6 [ 24] following the Human 1000 Genome guidelines incorporating information from dbSNP vers.
After recalibration and local realignment using the Genome Analysis Toolkit (GATK version 1.0.5974) [ 15], the refined sequencing results were subjected to variant calling using a toolkit (Atlas2) [ 16].
Local realignment was conducted using the Genome Analysis Toolkit (GATK) [ 37] and SNPs were extracted from the reads alignment file using UnifiedGenotyper, based on multi sample calling.
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