<p>Detailed procedure was described in <i>Materials and Methods</i>. The URLs for the locus-specific databases used were as follows: <i>BRCA1/2</i>, <a href="http://research.nhgri.nih.gov/bic/" target="_blank">http://research.nhgri.nih.gov/bic/</a>; <i>TP53</i>, <a href="http://www-p53.iarc.fr/" target="_blank">http://www-p53.iarc.fr/</a>; DNA <i>MMR</i> genes, <a href="http://www.insight-group.org/" target="_blank">http://www.insight-group.org/</a>.</p
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<p><sup>a</sup>: B: blood; T: tumor.</p><p><sup>b</sup>:The DNA variant numbering is based on the <i...
Diagram describing the stepwise process of mining the data generated by whole exome sequencing using...
Locus-specific databases (LSDBs) are curated collections of sequence variants in genes associated wi...
The scheme outlines a typical candidate disease variant filtering strategy whereby successive filter...
<p><sup>1</sup>Chromosomal positions are based on hg19 and dbSNP Build 137;</p><p><sup>2</sup>Functi...
<p>Average number of variants remaining per sample after sequential or aggregate filtering steps.</p...
<p>Raw sequencing data was screened for common artifacts prior to the alignment step in a first qual...
Title Filtering of coding and non-coding genetic variants Description Filter genetic variants using ...
<p>UTR = untranslated region, SNV = single nucleotide variation, DIV = deletion/insertion variati...
Sequencing reduced-representation libraries of restriction site-associated DNA (RADseq) to identify ...
<p>The number of functional variants (non-synonymous/splice acceptor and donor site/insertions or de...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
<p>Overview of variant filtering to identify gCJD-related genes and gene variants. Each stage was pr...
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<p><sup>a</sup>: B: blood; T: tumor.</p><p><sup>b</sup>:The DNA variant numbering is based on the <i...
Diagram describing the stepwise process of mining the data generated by whole exome sequencing using...
Locus-specific databases (LSDBs) are curated collections of sequence variants in genes associated wi...
The scheme outlines a typical candidate disease variant filtering strategy whereby successive filter...
<p><sup>1</sup>Chromosomal positions are based on hg19 and dbSNP Build 137;</p><p><sup>2</sup>Functi...
<p>Average number of variants remaining per sample after sequential or aggregate filtering steps.</p...
<p>Raw sequencing data was screened for common artifacts prior to the alignment step in a first qual...
Title Filtering of coding and non-coding genetic variants Description Filter genetic variants using ...
<p>UTR = untranslated region, SNV = single nucleotide variation, DIV = deletion/insertion variati...
Sequencing reduced-representation libraries of restriction site-associated DNA (RADseq) to identify ...
<p>The number of functional variants (non-synonymous/splice acceptor and donor site/insertions or de...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
<p>Overview of variant filtering to identify gCJD-related genes and gene variants. Each stage was pr...
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as ...
<div><p>A diversity of tools is available for identification of variants from genome sequence data. ...
<p><sup>a</sup>: B: blood; T: tumor.</p><p><sup>b</sup>:The DNA variant numbering is based on the <i...