<p>Quantification uncertainty varies inversely with single nucleotide variant MAF, with the highest relative uncertainty at lower MAF and least percent relative uncertainty at higher MAF.</p
<p>Histogram plots showing reproducibility of percentage mutant allele burden in six separate qPCR r...
<p>MAF bins increase by factors of √10, to create four exponentially increasing bins.</p><p>N SNPs: ...
The new class of rare variant tests has usually been evaluated assuming perfect genotype information...
Quantification of tumor‐specific variants (TSVs) in cell‐free DNA is rapidly evolving as a prognosti...
The accuracy of MAF estimates per locus is defined as the differences between estimated and true MAF...
<p>Twenty nine SNV samples were diluted serially until they could no longer be measured with the ass...
<p>MAF-wise means are used to infer the trend in <i>r</i><sup><i>2</i></sup>. Only designs using LDh...
<p>Mean difference from the real allele frequency for each sample size (of the 100 random replicates...
Genotyping errors that are undetected in genome-wide association studies using single nucleotide pol...
Mutant (disorder-causing) allele frequency, f(m), for each disorder/breed per year of birth relative...
<p>The results are based on 90 reference haplotypes and the medium marker density (1 SNP per 6 kb). ...
Measurement error of a phenotypic trait reduces the power to detect genetic associations. We examine...
<p>The range (lines) and mean ± one standard deviation (solid boxes) of allele frequencies of the 10...
Mutant (disorder-causing) allele frequency, f(m), for each disorder/breed per year of birth relative...
<p>(A) Base substitution error rates of various DNA polymerases relative to Taq polymerase. (B) Prop...
<p>Histogram plots showing reproducibility of percentage mutant allele burden in six separate qPCR r...
<p>MAF bins increase by factors of √10, to create four exponentially increasing bins.</p><p>N SNPs: ...
The new class of rare variant tests has usually been evaluated assuming perfect genotype information...
Quantification of tumor‐specific variants (TSVs) in cell‐free DNA is rapidly evolving as a prognosti...
The accuracy of MAF estimates per locus is defined as the differences between estimated and true MAF...
<p>Twenty nine SNV samples were diluted serially until they could no longer be measured with the ass...
<p>MAF-wise means are used to infer the trend in <i>r</i><sup><i>2</i></sup>. Only designs using LDh...
<p>Mean difference from the real allele frequency for each sample size (of the 100 random replicates...
Genotyping errors that are undetected in genome-wide association studies using single nucleotide pol...
Mutant (disorder-causing) allele frequency, f(m), for each disorder/breed per year of birth relative...
<p>The results are based on 90 reference haplotypes and the medium marker density (1 SNP per 6 kb). ...
Measurement error of a phenotypic trait reduces the power to detect genetic associations. We examine...
<p>The range (lines) and mean ± one standard deviation (solid boxes) of allele frequencies of the 10...
Mutant (disorder-causing) allele frequency, f(m), for each disorder/breed per year of birth relative...
<p>(A) Base substitution error rates of various DNA polymerases relative to Taq polymerase. (B) Prop...
<p>Histogram plots showing reproducibility of percentage mutant allele burden in six separate qPCR r...
<p>MAF bins increase by factors of √10, to create four exponentially increasing bins.</p><p>N SNPs: ...
The new class of rare variant tests has usually been evaluated assuming perfect genotype information...