Unknown

Dataset Information

0

Using Mendelian inheritance to improve high-throughput SNP discovery.


ABSTRACT: Restriction site-associated DNA sequencing or genotyping-by-sequencing (GBS) approaches allow for rapid and cost-effective discovery and genotyping of thousands of single-nucleotide polymorphisms (SNPs) in multiple individuals. However, rigorous quality control practices are needed to avoid high levels of error and bias with these reduced representation methods. We developed a formal statistical framework for filtering spurious loci, using Mendelian inheritance patterns in nuclear families, that accommodates variable-quality genotype calls and missing data--both rampant issues with GBS data--and for identifying sex-linked SNPs. Simulations predict excellent performance of both the Mendelian filter and the sex-linkage assignment under a variety of conditions. We further evaluate our method by applying it to real GBS data and validating a subset of high-quality SNPs. These results demonstrate that our metric of Mendelian inheritance is a powerful quality filter for GBS loci that is complementary to standard coverage and Hardy-Weinberg filters. The described method, implemented in the software MendelChecker, will improve quality control during SNP discovery in nonmodel as well as model organisms.

SUBMITTER: Chen N 

PROVIDER: S-EPMC4224174 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

Using Mendelian inheritance to improve high-throughput SNP discovery.

Chen Nancy N   Van Hout Cristopher V CV   Gottipati Srikanth S   Clark Andrew G AG  

Genetics 20140905 3


Restriction site-associated DNA sequencing or genotyping-by-sequencing (GBS) approaches allow for rapid and cost-effective discovery and genotyping of thousands of single-nucleotide polymorphisms (SNPs) in multiple individuals. However, rigorous quality control practices are needed to avoid high levels of error and bias with these reduced representation methods. We developed a formal statistical framework for filtering spurious loci, using Mendelian inheritance patterns in nuclear families, that  ...[more]

Similar Datasets

| S-EPMC1626092 | biostudies-literature
| S-EPMC3492240 | biostudies-literature
| S-EPMC3091665 | biostudies-literature
| S-EPMC6821039 | biostudies-literature
| S-EPMC5749704 | biostudies-literature
| S-EPMC3091671 | biostudies-literature
| S-EPMC6391812 | biostudies-literature
| S-EPMC2612698 | biostudies-literature
| S-EPMC2483731 | biostudies-literature
| S-EPMC2752119 | biostudies-literature