a) Refphase creates a minimum consistent segmentation across the single-sample segmentations input for each tumour. b) In each segment in which at least one sample had allelic imbalance in the tumour input, an optimal reference sample for phasing is determined. c) The phasing of each reference sample is derived from its BAF. d) Phasing is then applied to the BAFs in all other samples which are not the reference. e) Allele-specific copy numbers are re-estimated for each sample utilising the reference phasing, and the most parsimonious phasing solution along each chromosome is then chosen in horizontal phasing optimization. f) In each segment, event categories relative to the input ploidy of the corresponding sample are defined using LogR val...
BACKGROUND: Knowledge of phase, the specific allele sequence on each copy of homologous chromosomes,...
Tumor DNA sequencing data can be interpreted by computational methods that analyze genomic heterogen...
(A) Example of the true T for 6 hypothetical subclones. (B) Distance matrices reconstructed from the...
Most computational methods that infer somatic copy number alterations (SCNAs) from bulk sequencing o...
The reference phasing algorithm phases individual segments across all samples but not segments with ...
refphase: an R package for multi-region reference phasing of somatic copy-number alteration profiles...
(A) A vertical dependency exists between subclones A-D. In red a horizontally dependent region is hi...
The upper three panels show tracks for log read-depth ratio (LogR), B-Allele Frequency (BAF), re-est...
A haplotype is the sequence of nucleotides along a single chromosome. As humans, we have 23 pairs of...
The valuable information in correct order of alleles on the haplotypes has many applications in GWAS...
The 1000 Genomes Project and disease-specific sequencing efforts are producing large collections of ...
Tumours are composed of multiple subpopulations, each of which has its own genotype and phenotype. ...
Whole-genome sequencing can be used to estimate subclonal populations in tumours and this intra-tumo...
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally ...
(A) Mean of the error rates and 95% confidence intervals as a function of different tumor fractions ...
BACKGROUND: Knowledge of phase, the specific allele sequence on each copy of homologous chromosomes,...
Tumor DNA sequencing data can be interpreted by computational methods that analyze genomic heterogen...
(A) Example of the true T for 6 hypothetical subclones. (B) Distance matrices reconstructed from the...
Most computational methods that infer somatic copy number alterations (SCNAs) from bulk sequencing o...
The reference phasing algorithm phases individual segments across all samples but not segments with ...
refphase: an R package for multi-region reference phasing of somatic copy-number alteration profiles...
(A) A vertical dependency exists between subclones A-D. In red a horizontally dependent region is hi...
The upper three panels show tracks for log read-depth ratio (LogR), B-Allele Frequency (BAF), re-est...
A haplotype is the sequence of nucleotides along a single chromosome. As humans, we have 23 pairs of...
The valuable information in correct order of alleles on the haplotypes has many applications in GWAS...
The 1000 Genomes Project and disease-specific sequencing efforts are producing large collections of ...
Tumours are composed of multiple subpopulations, each of which has its own genotype and phenotype. ...
Whole-genome sequencing can be used to estimate subclonal populations in tumours and this intra-tumo...
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is generally ...
(A) Mean of the error rates and 95% confidence intervals as a function of different tumor fractions ...
BACKGROUND: Knowledge of phase, the specific allele sequence on each copy of homologous chromosomes,...
Tumor DNA sequencing data can be interpreted by computational methods that analyze genomic heterogen...
(A) Example of the true T for 6 hypothetical subclones. (B) Distance matrices reconstructed from the...