The practical use of graph-based reference genomes depends on the ability to align reads to them. Performing substring queries to paths through these graphs lies at the core of this task. The combination of increasing pattern length and encoded variations inevitably leads to a combinatorial explosion of the search space. Instead of heuristic filtering or pruning steps to reduce the complexity, we propose CHOP, a method that constrains the search space by exploiting haplotype information, bounding the search space to the number of haplotypes so that a combinatorial explosion is prevented. We show that CHOP can be applied to large and complex datasets, by applying it on a graph-based representation of the human genome encoding all 80 million ...
To access publisher's full text version of this article click on the hyperlink belowA fundamental re...
Abstract There is growing interest in using genetic variants to augment the reference genome into a ...
Abstract—SNPs are of fundamental importance for a variety of applications including medical diagnost...
The practical use of graph-based reference genomes depends on the ability to align reads to them. Pe...
MOTIVATION: The variation graph toolkit (VG) represents genetic variation as a graph. Although each ...
Motivation The variation graph toolkit (VG) represents genetic variation as a graph. Although each p...
Abstract We present a generalization of the positional Burrows–Wheeler transform, or PBWT, to genome...
Genomics has paved a new way to comprehend life and its evolution, and also to investigate causes of...
Genomics has paved a new way to comprehend life and its evolution, and also to investigate causes of...
Background Graph-based reference genomes have become popular as they allow read mapp...
Abstract Background Haplotype phasing is an important step in many bioinformatics workflows. In canc...
Inferring haplotype data from genotype data is a crucial step in linking SNPs to human diseases. Giv...
Inferring haplotype data from genotype data is a crucial step in linking SNPs to human diseases. Giv...
The scale of the problems which human genomics is asked to solve necessitates that the field develop...
The paper addresses the combinatorial problem of inferring the unknown haplotypes in a population, g...
To access publisher's full text version of this article click on the hyperlink belowA fundamental re...
Abstract There is growing interest in using genetic variants to augment the reference genome into a ...
Abstract—SNPs are of fundamental importance for a variety of applications including medical diagnost...
The practical use of graph-based reference genomes depends on the ability to align reads to them. Pe...
MOTIVATION: The variation graph toolkit (VG) represents genetic variation as a graph. Although each ...
Motivation The variation graph toolkit (VG) represents genetic variation as a graph. Although each p...
Abstract We present a generalization of the positional Burrows–Wheeler transform, or PBWT, to genome...
Genomics has paved a new way to comprehend life and its evolution, and also to investigate causes of...
Genomics has paved a new way to comprehend life and its evolution, and also to investigate causes of...
Background Graph-based reference genomes have become popular as they allow read mapp...
Abstract Background Haplotype phasing is an important step in many bioinformatics workflows. In canc...
Inferring haplotype data from genotype data is a crucial step in linking SNPs to human diseases. Giv...
Inferring haplotype data from genotype data is a crucial step in linking SNPs to human diseases. Giv...
The scale of the problems which human genomics is asked to solve necessitates that the field develop...
The paper addresses the combinatorial problem of inferring the unknown haplotypes in a population, g...
To access publisher's full text version of this article click on the hyperlink belowA fundamental re...
Abstract There is growing interest in using genetic variants to augment the reference genome into a ...
Abstract—SNPs are of fundamental importance for a variety of applications including medical diagnost...