<p>Genes containing variants and the associated sequencing platforms are shown. Most variants were associated with ExomeSeq data and there were a total of 409 genes on the AmpliSeq CCP.</p
Summary Large-scale reference data sets of human genetic variation are critical for the medical and ...
International audienceHigh-throughput sequencing technologies have become fundamental for the identi...
<p><b>A</b>–<b>B</b>. Comparison of the variant allelic frequency of mutations detected using whole ...
<p>Summary of all variants identified in this study, the majority of which were found in primary tum...
<p>Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...
<p>List of nucleotide variants from exome data which showed autosomal recessive inheritance model in...
Only coding non-silent somatic mutations are considered. (A) Mutation rates (top panel), top mutated...
It is well established that genomic alterations play an essential role in oncogenesis, disease progr...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
Identification of gene variants plays an important role in research on and diagnosis of genetic dise...
<p>Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous...
Schematic diagram demonstrating the number and distribution of variants identified through whole exo...
Introduction:Exome sequencing (ES) is becoming a preferred methodology for detecting DNA changes in ...
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies...
<p>Details of discordant variants from whole genome and exome sequencing data.</p
Summary Large-scale reference data sets of human genetic variation are critical for the medical and ...
International audienceHigh-throughput sequencing technologies have become fundamental for the identi...
<p><b>A</b>–<b>B</b>. Comparison of the variant allelic frequency of mutations detected using whole ...
<p>Summary of all variants identified in this study, the majority of which were found in primary tum...
<p>Summary of five candidate variants with a consistent inheritance pattern detected by whole exome ...
<p>List of nucleotide variants from exome data which showed autosomal recessive inheritance model in...
Only coding non-silent somatic mutations are considered. (A) Mutation rates (top panel), top mutated...
It is well established that genomic alterations play an essential role in oncogenesis, disease progr...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
Identification of gene variants plays an important role in research on and diagnosis of genetic dise...
<p>Exome sequence variants shared by all affected individuals in homozygous or compound heterozygous...
Schematic diagram demonstrating the number and distribution of variants identified through whole exo...
Introduction:Exome sequencing (ES) is becoming a preferred methodology for detecting DNA changes in ...
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies...
<p>Details of discordant variants from whole genome and exome sequencing data.</p
Summary Large-scale reference data sets of human genetic variation are critical for the medical and ...
International audienceHigh-throughput sequencing technologies have become fundamental for the identi...
<p><b>A</b>–<b>B</b>. Comparison of the variant allelic frequency of mutations detected using whole ...
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