<p>Two heterozygous causative variants A) <i>BRCA1</i> c.3671_3672insCTTC and B) <i>BRCA2</i> c.2918C>A that were missed without primer trimming were detected with the function enabled in the pipeline. Both calls were confirmed with Sanger sequencing.</p
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals...
<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<p>Primers used in Sanger sequencing for validation of identified HaloPlex/NGS variants in the <i>GN...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
Three sets of polymerase chain reaction (PCR) primers were designed for heminested PCR amplification...
<p>Candidate region identified using linkage analysis in PACG pedigree animals (left). Sequence chro...
<p>Five cases with matched tumor—blood samples are shown. Annotations in black letters are given for...
<p>(<b>A</b>) Screenshot of the short read mapping against the reference sequence, note the red labe...
Detection of mutations by DNA sequencing can be facilitated by scanning methods to identify amplicon...
<p>SSEQ, Sanger sequencing; ASLNA, allele specific quantitative PCR using 3′-locked nucleic acid mod...
<p>A) Mosaic pathogenic mutation c.5583delA in <i>BRCA2</i> was detected at allele ratio of 14.9% an...
Sanger DNA sequencing is widely used nowadays to identify germ-line alterations of cancer predisposi...
<p>(<b>a</b>) Sanger sequencing; (<b>b</b>) pyrosequencing-based assay U-BRAF<sup>V600</sup>. “+” in...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals...
<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<p>Primers used in Sanger sequencing for validation of identified HaloPlex/NGS variants in the <i>GN...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
Three sets of polymerase chain reaction (PCR) primers were designed for heminested PCR amplification...
<p>Candidate region identified using linkage analysis in PACG pedigree animals (left). Sequence chro...
<p>Five cases with matched tumor—blood samples are shown. Annotations in black letters are given for...
<p>(<b>A</b>) Screenshot of the short read mapping against the reference sequence, note the red labe...
Detection of mutations by DNA sequencing can be facilitated by scanning methods to identify amplicon...
<p>SSEQ, Sanger sequencing; ASLNA, allele specific quantitative PCR using 3′-locked nucleic acid mod...
<p>A) Mosaic pathogenic mutation c.5583delA in <i>BRCA2</i> was detected at allele ratio of 14.9% an...
Sanger DNA sequencing is widely used nowadays to identify germ-line alterations of cancer predisposi...
<p>(<b>a</b>) Sanger sequencing; (<b>b</b>) pyrosequencing-based assay U-BRAF<sup>V600</sup>. “+” in...
Single nucleotide variants are the most frequent type of sequence changes detected in the genome and...
The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals...
<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...