<p>Validation was performed using PCR on both genomic DNA and copy-DNA, followed by conventional Sanger sequencing. The first and second column represents the name of the gene and the amino acid substitution respectively. The third, fourth, seventh and eighth column represent next-generation sequencing results for whole exome and transcriptome sequencing, which are then validated with Sanger sequencing in the fifth, sixth, ninth and tenth column. A + denotes that the mutation was detected, a – denotes that the mutation was not detected, while 0 means that no PCR-product could be amplified and/that this position was not covered with next-generation sequencing.</p
Mutations identified using next generation sequencing as stratified by the European society of medic...
<p>Sanger sequence validation of highly expressed novel somatic SNVs for <i>MRPL3</i> variant in the...
CONTEXT: Next-generation sequencing allows for high-throughput processing and sensitive variant dete...
<p>Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...
<p>Potential mutations were prioritized using the product quality score (see Methods). Primers used ...
<p>Key: *Low confidence, Mutated Codon column-somatic mutation depicted in bold face.</p
<p>A) The absolute number of samples with a mutation in various genes as denoted on the x-axis that ...
<p>NGS, Next Generation Sequencing; Mut cases, cases with any mutation; Del Ex19, deletion in exon 1...
<p>Five cases with matched tumor—blood samples are shown. Annotations in black letters are given for...
<p>Fifty six colorectal cancer tissue samples were analyzed. Only those with a mutation in exon 4 ar...
<p>Sanger sequencing validation of MPG eSNV in HER2 tumor. RNA-Seq reads shown over Sanger sequence ...
Verification of the cpnC- mutant cell line using PCR and genome sequencing. A) Diagram indicating wh...
<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are ...
<p>Sanger sequence validation of low expressed novel somatic SNVs for <i>FOXA1</i> in the BCT40 HER2...
<p>Detected mutations (including Missense point mutations/deletion/insertion) in 45 genes (737 loci)...
Mutations identified using next generation sequencing as stratified by the European society of medic...
<p>Sanger sequence validation of highly expressed novel somatic SNVs for <i>MRPL3</i> variant in the...
CONTEXT: Next-generation sequencing allows for high-throughput processing and sensitive variant dete...
<p>Candidate mutations in 9 autosomal dominant and 4 autosomal recessive NSHL families were shown in...
<p>Potential mutations were prioritized using the product quality score (see Methods). Primers used ...
<p>Key: *Low confidence, Mutated Codon column-somatic mutation depicted in bold face.</p
<p>A) The absolute number of samples with a mutation in various genes as denoted on the x-axis that ...
<p>NGS, Next Generation Sequencing; Mut cases, cases with any mutation; Del Ex19, deletion in exon 1...
<p>Five cases with matched tumor—blood samples are shown. Annotations in black letters are given for...
<p>Fifty six colorectal cancer tissue samples were analyzed. Only those with a mutation in exon 4 ar...
<p>Sanger sequencing validation of MPG eSNV in HER2 tumor. RNA-Seq reads shown over Sanger sequence ...
Verification of the cpnC- mutant cell line using PCR and genome sequencing. A) Diagram indicating wh...
<p>Of the filtered 41 candidates, 21 variants were confirmed by Sanger sequencing. Two examples are ...
<p>Sanger sequence validation of low expressed novel somatic SNVs for <i>FOXA1</i> in the BCT40 HER2...
<p>Detected mutations (including Missense point mutations/deletion/insertion) in 45 genes (737 loci)...
Mutations identified using next generation sequencing as stratified by the European society of medic...
<p>Sanger sequence validation of highly expressed novel somatic SNVs for <i>MRPL3</i> variant in the...
CONTEXT: Next-generation sequencing allows for high-throughput processing and sensitive variant dete...