Fast genotyping of known SNPs through approximate k-mer matching
Motivation As the volume of next-generation sequencing (NGS) data increases, faster
algorithms become necessary. Although speeding up individual components of a sequence …
algorithms become necessary. Although speeding up individual components of a sequence …
Toward fast and accurate SNP genotyping from whole genome sequencing data for bedside diagnostics
C Sun, P Medvedev - Bioinformatics, 2019 - academic.oup.com
Motivation Genotyping a set of variants from a database is an important step for identifying
known genetic traits and disease-related variants within an individual. The growing size of …
known genetic traits and disease-related variants within an individual. The growing size of …
SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays
Motivation: The technology to genotype single nucleotide polymorphisms (SNPs) at
extremely high densities provides for hypothesis-free genome-wide scans for common …
extremely high densities provides for hypothesis-free genome-wide scans for common …
[HTML][HTML] Fast-GBS: a new pipeline for the efficient and highly accurate calling of SNPs from genotyping-by-sequencing data
D Torkamaneh, J Laroche, M Bastien, A Abed… - BMC …, 2017 - Springer
Background Next-generation sequencing (NGS) technologies have accelerated
considerably the investigation into the composition of genomes and their functions …
considerably the investigation into the composition of genomes and their functions …
An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
Next-generation sequencing is a powerful approach for discovering genetic variation.
Sensitive variant calling and haplotype inference from population sequencing data remain …
Sensitive variant calling and haplotype inference from population sequencing data remain …
[HTML][HTML] KAGE: fast alignment-free graph-based genotyping of SNPs and short indels
Genotyping is a core application of high-throughput sequencing. We present KAGE, a
genotyper for SNPs and short indels that is inspired by recent developments within graph …
genotyper for SNPs and short indels that is inspired by recent developments within graph …
QuickSNP: an automated web server for selection of tagSNPs
D Grover, AS Woodfield, R Verma… - Nucleic acids …, 2007 - academic.oup.com
Although large-scale genetic association studies involving hundreds to thousands of SNPs
have become feasible, the associated cost is substantial. Even with the increased efficiency …
have become feasible, the associated cost is substantial. Even with the increased efficiency …
ComB: SNP calling and mapping analysis for color and nucleotide space platforms
T Souaiaia, Z Frazier, T Chen - Journal of Computational Biology, 2011 - liebertpub.com
The determination of single nucleotide polymorphisms (SNPs) has become faster and more
cost effective since the advent of short read data from next generation sequencing platforms …
cost effective since the advent of short read data from next generation sequencing platforms …
[HTML][HTML] MALVA: genotyping by Mapping-free ALlele detection of known VAriants
The amount of genetic variation discovered in human populations is growing rapidly leading
to challenging computational tasks, such as variant calling. Standard methods for …
to challenging computational tasks, such as variant calling. Standard methods for …
A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees
Motivation: The use of dense single nucleotide polymorphism (SNP) data in genetic linkage
analysis of large pedigrees is impeded by significant technical, methodological and …
analysis of large pedigrees is impeded by significant technical, methodological and …