*<p>Whole exome sequencing of genomic DNA from two <i>P43</i> mutants was performed. All mutations (heterozygous and homozygous mutations) supported by a minimum coverage of 10 are presented (SS, synonymous mutation; NS, non-synonymous mutation; DM, damaging mutation).</p
The advent of next-generation sequencing technologies has revolutionized the study of genetic variat...
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus s...
In the last few years, next-generation sequencing (NGS)5 has revolutionized the approaches bywhichwe...
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...
<p>(A) Clustering of whole exome sequencing mutation data based on the mutation status of the genes ...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
<p><b>A</b>–<b>B</b>. Comparison of the variant allelic frequency of mutations detected using whole ...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
On average, we identified 220 (range, 126–358) somatically acquired point mutations per case. Of the...
<p>Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.</p
Exome sequencing means that all protein-coding genes in a genome are sequenced. In Humans, there ar...
BACKGROUND:With the expanded availability of next generation sequencing (NGS)-based clinical genetic...
<p>* Changes are defined as being within coding regions or at intron-exon boundaries and have a Phre...
Exome sequence capture and massively parallel sequencing can be combined to achieve inexpensive and ...
The advent of next-generation sequencing technologies has revolutionized the study of genetic variat...
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus s...
In the last few years, next-generation sequencing (NGS)5 has revolutionized the approaches bywhichwe...
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...
<p>(A) Clustering of whole exome sequencing mutation data based on the mutation status of the genes ...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
<p><b>A</b>–<b>B</b>. Comparison of the variant allelic frequency of mutations detected using whole ...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
On average, we identified 220 (range, 126–358) somatically acquired point mutations per case. Of the...
<p>Biallelic mutations identified in DFNB genes using a whole exome sequencing strategy.</p
Exome sequencing means that all protein-coding genes in a genome are sequenced. In Humans, there ar...
BACKGROUND:With the expanded availability of next generation sequencing (NGS)-based clinical genetic...
<p>* Changes are defined as being within coding regions or at intron-exon boundaries and have a Phre...
Exome sequence capture and massively parallel sequencing can be combined to achieve inexpensive and ...
The advent of next-generation sequencing technologies has revolutionized the study of genetic variat...
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus s...
In the last few years, next-generation sequencing (NGS)5 has revolutionized the approaches bywhichwe...