Gene-mapping studies, regularly, rely on examination for Mendelian transmission of marker alleles in a pedigree as a way of screening for genotyping errors and mutations. For analysis of family data sets, it is, usually, necessary to resolve or remove the genotyping errors prior to consideration. At the Center of Inherited Disease Research (CIDR), to deal with their large-scale data flow, they formalized their data cleaning approach in a set of rules based on PedCheck output. We scrutinize via carefully designed simulations that how well CIDR's data cleaning rules work in practice. We found that genotype errors in siblings are detected more often than in parents for less polymorphic SNPs and vice versa for more polymorphic SNPs. Through com...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
The impact of erroneous genotypes having passed standard quality control (QC) can be severe in genom...
Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pe...
Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pe...
Genotype error can greatly reduce the power of a genetic study. For family data, genotype error can ...
Detection of genotyping errors and integration of such errors in statistical analysis are relatively...
1. Genotyping errors are rules rather than exceptions in reality, and are found in virtually all but...
The identification and characterization of genes involved in human disease, especially complex disea...
Although it is clear that errors in genotyping data can lead to severe errors in linkage analysis, t...
Two likelihood-based score statistics are used to detect association between a disease and a single ...
SummaryPrior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the...
Assessing the genetic causation of a disease, which is of prime importance in medical genetics, is u...
Thesis (Ph.D.)--University of Washington, 2013Recent emergence of the common disease-rare variant hy...
When analyzing family data, we dream of perfectly informative data, even whole-genome sequences (WGS...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
The impact of erroneous genotypes having passed standard quality control (QC) can be severe in genom...
Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pe...
Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pe...
Genotype error can greatly reduce the power of a genetic study. For family data, genotype error can ...
Detection of genotyping errors and integration of such errors in statistical analysis are relatively...
1. Genotyping errors are rules rather than exceptions in reality, and are found in virtually all but...
The identification and characterization of genes involved in human disease, especially complex disea...
Although it is clear that errors in genotyping data can lead to severe errors in linkage analysis, t...
Two likelihood-based score statistics are used to detect association between a disease and a single ...
SummaryPrior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the...
Assessing the genetic causation of a disease, which is of prime importance in medical genetics, is u...
Thesis (Ph.D.)--University of Washington, 2013Recent emergence of the common disease-rare variant hy...
When analyzing family data, we dream of perfectly informative data, even whole-genome sequences (WGS...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
We studied the extent to which genotyping of simple sequence repeat polymorphisms (SSRs) in pooled D...
The impact of erroneous genotypes having passed standard quality control (QC) can be severe in genom...