<p>Both mutations are predicted by GATK, SomaticSNiPer and SAMtools. The mean coverage is 54 (true positive) and 10 (false positive), respectively. Only four reads are shown for visual clarity. The red box marks the sample, in which the three mutation callers wrongly detected a SNV.</p
<p>(A) Mapped reads of Patient 10 loaded in the IGV browser (Version 2.3.34). <i>CBL</i> p.T377A (c....
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...
Background: Single Nucleotide Polymorphisms (SNPs) are widely used molecular markers, and their use ...
<p>Sanger sequence validation of highly expressed novel somatic SNVs for <i>MRPL3</i> variant in the...
<p>(<b>A</b>) Screenshot of the short read mapping against the reference sequence, note the red labe...
<p>To identify the profile of false positives, sequencing coverage was plotted against the heterozyg...
<p>Fig 2A illustrates output from Illumina HiSeq using standard library prep on cell-free DNA sample...
Next-generation sequencing (NGS) has rapidly replaced Sanger sequencing as the method of choice for ...
<p>(A). A snapshot of UCSC genome browser showing H3K4me3 ChIP-seq reads density at BACH2 promoter. ...
<p>All illustrated mutations were confirmed via sequencing the forward strand. Sample number and mut...
<p>TASR was run incrementally on up to 2 billion, 51 and 76 nt lobular breast cancer NGS whole-genom...
<p>(A) Mapped reads of a Patient with RCMD loaded in the IGV browser (Version 2.3.34). <i>TET2</i> p...
Short-read, next-generation sequencing (NGS) is now broadly used to identify rare or de novo mutatio...
BackgroundMore than 11,000 laboratories and companies developed their own next-generation sequencing...
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...
<p>(A) Mapped reads of Patient 10 loaded in the IGV browser (Version 2.3.34). <i>CBL</i> p.T377A (c....
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...
Background: Single Nucleotide Polymorphisms (SNPs) are widely used molecular markers, and their use ...
<p>Sanger sequence validation of highly expressed novel somatic SNVs for <i>MRPL3</i> variant in the...
<p>(<b>A</b>) Screenshot of the short read mapping against the reference sequence, note the red labe...
<p>To identify the profile of false positives, sequencing coverage was plotted against the heterozyg...
<p>Fig 2A illustrates output from Illumina HiSeq using standard library prep on cell-free DNA sample...
Next-generation sequencing (NGS) has rapidly replaced Sanger sequencing as the method of choice for ...
<p>(A). A snapshot of UCSC genome browser showing H3K4me3 ChIP-seq reads density at BACH2 promoter. ...
<p>All illustrated mutations were confirmed via sequencing the forward strand. Sample number and mut...
<p>TASR was run incrementally on up to 2 billion, 51 and 76 nt lobular breast cancer NGS whole-genom...
<p>(A) Mapped reads of a Patient with RCMD loaded in the IGV browser (Version 2.3.34). <i>TET2</i> p...
Short-read, next-generation sequencing (NGS) is now broadly used to identify rare or de novo mutatio...
BackgroundMore than 11,000 laboratories and companies developed their own next-generation sequencing...
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...
<p>(A) Mapped reads of Patient 10 loaded in the IGV browser (Version 2.3.34). <i>CBL</i> p.T377A (c....
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic m...
Background: Single Nucleotide Polymorphisms (SNPs) are widely used molecular markers, and their use ...