<p><sup>1</sup>Chromosomal positions are based on hg19 and dbSNP Build 137;</p><p><sup>2</sup>Functional data are from PubMed searches and the 1000 Genomes Project.</p><p>Brief information regarding the variants that occurred in at least two patients after filtering.</p
Diagram describing the stepwise process of mining the data generated by whole exome sequencing using...
<p><b>Notes</b>: 1: Dominant mode only considered with variants in heterozygous genotypes and with s...
Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but m...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing lab...
<p>The number of functional variants (non-synonymous/splice acceptor and donor site/insertions or de...
<p>Average number of variants remaining per sample after sequential or aggregate filtering steps.</p...
The American College of Medical Genetics and Genomics (ACMG) recommends that clini-cal sequencing la...
International audienceAdoption of next-generation sequencing (NGS) in a diagnostic context raises nu...
<p>Detailed procedure was described in <i>Materials and Methods</i>. The URLs for the locus-specific...
Over the last decade, a substantial amount of work in genetics has been done with the goal of unders...
<p>Of the 27,648 variants identified in two siblings, all synonymous SNPs were excluded, and only ra...
<p>Gene: official Symbol provide by HGNC; dbSNP: variants with or without rs numbers. AA Substitutio...
<p>Raw sequencing data was screened for common artifacts prior to the alignment step in a first qual...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
Diagram describing the stepwise process of mining the data generated by whole exome sequencing using...
<p><b>Notes</b>: 1: Dominant mode only considered with variants in heterozygous genotypes and with s...
Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but m...
<div><p>The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequen...
The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing lab...
<p>The number of functional variants (non-synonymous/splice acceptor and donor site/insertions or de...
<p>Average number of variants remaining per sample after sequential or aggregate filtering steps.</p...
The American College of Medical Genetics and Genomics (ACMG) recommends that clini-cal sequencing la...
International audienceAdoption of next-generation sequencing (NGS) in a diagnostic context raises nu...
<p>Detailed procedure was described in <i>Materials and Methods</i>. The URLs for the locus-specific...
Over the last decade, a substantial amount of work in genetics has been done with the goal of unders...
<p>Of the 27,648 variants identified in two siblings, all synonymous SNPs were excluded, and only ra...
<p>Gene: official Symbol provide by HGNC; dbSNP: variants with or without rs numbers. AA Substitutio...
<p>Raw sequencing data was screened for common artifacts prior to the alignment step in a first qual...
<p>These graphs compare the number of variants per person at different stages of the literature scre...
Diagram describing the stepwise process of mining the data generated by whole exome sequencing using...
<p><b>Notes</b>: 1: Dominant mode only considered with variants in heterozygous genotypes and with s...
Purpose: Automated variant filtering is an essential part of diagnostic genome-wide sequencing but m...
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