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Genetic Loci

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Who's Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy.

American journal of human genetics
The potential for genetic discovery in human DNA sequencing studies is greatly diminished if DNA samples from a cohort are mislabeled, swapped, or contaminated or if they include unintended individuals. Unfortunately, the potential for such errors is...

Multiobjective differential evolution-based multifactor dimensionality reduction for detecting gene-gene interactions.

Scientific reports
Epistasis within disease-related genes (gene-gene interactions) was determined through contingency table measures based on multifactor dimensionality reduction (MDR) using single-nucleotide polymorphisms (SNPs). Most MDR-based methods use the single ...

PBMDR: A particle swarm optimization-based multifactor dimensionality reduction for the detection of multilocus interactions.

Journal of theoretical biology
Studies on multilocus interactions have mainly investigated the associations between genetic variations from the related genes and histopathological tumor characteristics in patients. However, currently, the identification and characterization of sus...

Forensic STR allele extraction using a machine learning paradigm.

Forensic science international. Genetics
We present a machine learning approach to short tandem repeat (STR) sequence detection and extraction from massively parallel sequencing data called Fragsifier. Using this approach, STRs are detected on each read by first locating the longest repeat ...

DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction.

Human mutation
Detecting epistatic interaction is a typical way of identifying the genetic susceptibility of complex diseases. Multifactor dimensionality reduction (MDR) is a decent solution for epistasis detection. Existing MDR-based methods still suffer from high...