<p><b>(A)</b> Comprehensive illustration of 441 evaluated read alignment results. Each method is referenced in standard, and in two additional, parameter settings. The plots show the number of aligned reads, where the range for each bar illustrates the observed variability when different lines were used. <b>(B)</b> Heat map depicts the true positive sites in the 50k array. A total of 504 combinations of read alignment and variant calling methods were evaluated to identify recommended or less optimal applications (genotype NC358). <b>(C)</b> Variant caller performance compared to the 50k array. The total number of identified SNPs, as well as the number of unique SNPs, is depicted for each of the eight evaluated methods (genotype NC358).</p
Structural variations (SVs) play a crucial role in ge-netic diversity. However, the alignments of re...
Mapping reads to a reference sequence is a common step when analyzing allele effects in high-through...
Background: Several sources of noise obfuscate the identification of single nucleotide variation (SN...
<p>*Number of total reads is 10,409,726</p><p>In this broad evaluation 21 inbred maize lines were in...
<p>The experimentally obtained rice reads (60, 30, and 15 millions) were mixed with the simulated 75...
This thesis investigates the accuracy bounds imposed on alignment-based variant calling workflows du...
Massive data produced due to the advent of next-generation sequencing (NGS) technology is widely use...
Aligning sequencing reads onto a reference is an essential step of the majority of genomic analysis ...
The proportion of simulated reads which successfully aligned is defined for each locus by the ratio ...
<p>Proportion of aligned reads in each steps of the alignment process and proportion of unaligned re...
<p>(A) The number of RNA variants (single nucleotide variants; SNVs) in each sample (C0–C9 or N1–N3)...
The identification of genetic variants has great significance in genetic research. To call variants ...
abstract: Analyzing human DNA sequence data allows researchers to identify variants associated with ...
Abstract Background The use of artificial data to evaluate the performance of aligners and peak call...
A new procedure to align single-nucleotide polymorphism (SNP) microarray signals for copy number ana...
Structural variations (SVs) play a crucial role in ge-netic diversity. However, the alignments of re...
Mapping reads to a reference sequence is a common step when analyzing allele effects in high-through...
Background: Several sources of noise obfuscate the identification of single nucleotide variation (SN...
<p>*Number of total reads is 10,409,726</p><p>In this broad evaluation 21 inbred maize lines were in...
<p>The experimentally obtained rice reads (60, 30, and 15 millions) were mixed with the simulated 75...
This thesis investigates the accuracy bounds imposed on alignment-based variant calling workflows du...
Massive data produced due to the advent of next-generation sequencing (NGS) technology is widely use...
Aligning sequencing reads onto a reference is an essential step of the majority of genomic analysis ...
The proportion of simulated reads which successfully aligned is defined for each locus by the ratio ...
<p>Proportion of aligned reads in each steps of the alignment process and proportion of unaligned re...
<p>(A) The number of RNA variants (single nucleotide variants; SNVs) in each sample (C0–C9 or N1–N3)...
The identification of genetic variants has great significance in genetic research. To call variants ...
abstract: Analyzing human DNA sequence data allows researchers to identify variants associated with ...
Abstract Background The use of artificial data to evaluate the performance of aligners and peak call...
A new procedure to align single-nucleotide polymorphism (SNP) microarray signals for copy number ana...
Structural variations (SVs) play a crucial role in ge-netic diversity. However, the alignments of re...
Mapping reads to a reference sequence is a common step when analyzing allele effects in high-through...
Background: Several sources of noise obfuscate the identification of single nucleotide variation (SN...