Simultaneous estimation of genotype error and uncalled deletion rates in whole genome sequence data

Abstract excerpt

Genotype data include errors that may influence conclusions reached by downstream statistical analyses. Previous studies have estimated genotype error rates from discrepancies in human pedigree data, such as Mendelian inconsistent genotypes or apparent phase violations. However, uncalled deletions, which generally have not been accounted for in these studies, can lead to biased error rate estimates. In this study,...

Topics

Open a Topic to create a Post that cites this publication.

• Computer Simulation
• Gene Frequency
• Genome, Human
• Models, Genetic
• Pedigree
• Polymorphism, Single Nucleotide
• Sequence Deletion
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

c7bac3b5-597b-5a6a-9d6e-1d8558087993

DOI

10.1101/2024.02.06.579174