The site MAF distribution for 9010 minor alleles created by artificial mixture with a mean mixture of 0.3Â % and a sequence coverage of 4000. The variation is caused by the random distribution of reads along the genome. (PDF 4Â kb
Figure S5. Scatter plot of OCI-AML3 chr 13 showing medial q-arm deletion and possible small distal d...
<p>Box plot of the minor allele frequency for all associated variants in the different scenarios. Al...
QC measures reduce overdispersion in technical replicates when testing for allelic imbalance using a...
The distribution of the number of bases in each bin, which is defined as per phred score (typically ...
Recalibrated base quality scores for simulated data analyzed with different methods, compared to the...
The sequence depth dependency for minor allele detection in SEGREG-based LLR. Minor alleles with dif...
A comparison of segmented vs. quadratic regression applied to base score recalibration for phiX174 d...
<p>Distribution of minor allele frequencies (MAF) of all 129,156 genotyped sequence variants.</p
Proportions of wrongly called genotypes at four depths averaged over the whole genome and over 10 re...
Figure S4. Deterioration of allele frequencies (AF) and copy number signals by decreased cell input....
Frequency of indels and non-indels in each MAF dataset. Distribution of mutation frequency across MA...
<p>Shown are (a) all assayed SNPs, (b) sequence-based candidates for height, (c) top 50 candidate SN...
Calculating P-values for findings from previous whole-exome or targeted sequencing studies. The para...
NA12878_MRA.xls. Homozygous minor reference alleles in GIAB NA12878 reference sample. (XLS 395Â kb
The accuracy of MAF estimates per locus is defined as the differences between estimated and true MAF...
Figure S5. Scatter plot of OCI-AML3 chr 13 showing medial q-arm deletion and possible small distal d...
<p>Box plot of the minor allele frequency for all associated variants in the different scenarios. Al...
QC measures reduce overdispersion in technical replicates when testing for allelic imbalance using a...
The distribution of the number of bases in each bin, which is defined as per phred score (typically ...
Recalibrated base quality scores for simulated data analyzed with different methods, compared to the...
The sequence depth dependency for minor allele detection in SEGREG-based LLR. Minor alleles with dif...
A comparison of segmented vs. quadratic regression applied to base score recalibration for phiX174 d...
<p>Distribution of minor allele frequencies (MAF) of all 129,156 genotyped sequence variants.</p
Proportions of wrongly called genotypes at four depths averaged over the whole genome and over 10 re...
Figure S4. Deterioration of allele frequencies (AF) and copy number signals by decreased cell input....
Frequency of indels and non-indels in each MAF dataset. Distribution of mutation frequency across MA...
<p>Shown are (a) all assayed SNPs, (b) sequence-based candidates for height, (c) top 50 candidate SN...
Calculating P-values for findings from previous whole-exome or targeted sequencing studies. The para...
NA12878_MRA.xls. Homozygous minor reference alleles in GIAB NA12878 reference sample. (XLS 395Â kb
The accuracy of MAF estimates per locus is defined as the differences between estimated and true MAF...
Figure S5. Scatter plot of OCI-AML3 chr 13 showing medial q-arm deletion and possible small distal d...
<p>Box plot of the minor allele frequency for all associated variants in the different scenarios. Al...
QC measures reduce overdispersion in technical replicates when testing for allelic imbalance using a...
DOI
Add to ORKG