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Showing 1 to 6 of 6 for “"Haplotype Inference"”.
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Haplotype Inference through Sequential Monte Carlo
… arguments have been made for the use of haplotypes, i.e. combinations of alleles at multiple loci in individual chromosomes, as opposed to genotypes so the problem of haplotype inference is particularly relevant. Existing haplotyping methods include population based methods, methods for …
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Algorithms For Haplotype Inference And Block Partitioning
… of SNPs on a block of the chromosome is called a haplotype. Each block might contain a large number of SNPs, but a small subset of these SNPs are sufficient to uniquely dentify each haplotype in the block. The haplotype map or HapMap is a map of these haplotype blocks. Haplotypes, rather than …
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Inferring Determinants of Viral Transmission using Short-Read Sequence Data
… I examine the problem of constructing reliable haplotypes from short-read sequence data, considering the performance of both exhaustive and minimal approaches in capturing linkage characteristics of the viral population. I present a simple method for bottleneck inference rooted in a multi-locus …
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Haplotype-Based Association Studies: Approaches to Current Challenges
<p>Haplotype-based association studies have greatly aided researchers in their attempts to map genes. However, current designs of haplotype-based association studies lead to several challenges from a statistical perspective. To reduce the number of variants, some researchers have employed …
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Sviluppo di una piattaforma per la diagnosi prenatale non invasiva di malattie genetiche in epoca gestazionale precoce
… sequencing (Ion Torrent PGM) and fetal haplotype inference. In particular, the approach is based on target sequencing of the mutation site, the β°39 non sense mutation of the HBB gene, and several informative SNPs spread in the β-globin gene cluster. The data analysis of each cffDNA …
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Haplotype-Informed Allelic Imbalance Detection From Rna In Cancer
… approach that overcomes these challenges using haplotype information to aid detection of somatic chromosomal copy number alterations (SCNAs), which result in allelic imbalance, i.e., deviations from the expected 1-to-1 allelic ratios at heterozygous loci. We initially applied a native version of …