What is BAF?¶ In this context, the “B” allele is the non-reference allele observed in a germline heterozygous SNP, i.e. in the normal/control sample. Since the tumor cells’ DNA originally …

BAF is the proportion of hybridized sample that carries the B allele as designated by the Infinium assay. In a normal sample, discrete BAFs of 0.0, 0.5, and 1.0 are expected for each locus …

The cnvPartition algorithm developed by Illumina (http://www.illumina.com/documents/products/technotes/technote_cnv_algorithms.pdf) detects …

"The B-Allele Frequency is a normalized measure of the allelic intensity ratio of two alleles (A and B), such that a BAF of 1 or 0 indicates the complete absence of one of the two alleles (e.g. AA …

Jan 3, 2020 · CaSpER employs an efficient methodology for the generation of a genome-wide B-allele frequency (BAF) signal profile from the reads and utilizes it for correction of CNVs calls.

Microarrays are frequently used to profile genome-wide copy number (CN) aberrations. While generally robust for detecting CN variants in germline DNA, the methods used to derive CN …

To achieve finer mapping and improve a posteriori CNV validation, PennCNV incorporates several sources of available data, including population-based BAF for each SNP, distance between …

Gain and loss have higher and lower values than zero, respectively. c B-allele frequency (BAF) is calculated by dividing the signal intensities of minor (B) allele by those of major (A) plus...

Nov 18, 2021 · Detecting copy number variations (CNVs) and copy number alterations (CNAs) based on whole-genome sequencing data is important for personalized genomics and …

The BCFtools package implements two methods (the polysomy and cnv commands) for sensitive detection of copy number alterations, aneuploidy and contamination. In contrast to other …