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[PDF] Top 20 Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data

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Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data

Application of collapsing methods for continuous traits to the Genetic Analysis Workshop 17 exome sequence data

... Genetic Analysis Workshop 17 used real sequence data from the 1000 Genomes Project and simulated phenotypes influenced by a large number of rare ...various collapsing ... See full document

5

Collapsing based and kernel based single gene analyses applied to Genetic Analysis Workshop 17 mini exome data

Collapsing based and kernel based single gene analyses applied to Genetic Analysis Workshop 17 mini exome data

... different methods. The true causal gene PIK3C3 was identified by all methods, probably because of its relatively large effect size and ...by methods con- sidering both synonymous and nonsynonymous ... See full document

8

Two stage analyses of sequence variants in association with quantitative traits

Two stage analyses of sequence variants in association with quantitative traits

... the analysis of sequence variants in which a proportion of genes that show some evidence of association are identified initially and then followed up in an independent data ...the analysis of ... See full document

6

Large scale risk prediction applied to Genetic Analysis Workshop 17 mini exome sequence data

Large scale risk prediction applied to Genetic Analysis Workshop 17 mini exome sequence data

... the application of Efron ’ s empirical Bayes classification method to risk prediction in a genome-wide association study using the Genetic Analysis Workshop 17 (GAW17) ...our ... See full document

9

Use of Bayesian networks to dissect the complexity of genetic disease: application to the Genetic Analysis Workshop 17 simulated data

Use of Bayesian networks to dissect the complexity of genetic disease: application to the Genetic Analysis Workshop 17 simulated data

... peptide sequence, they are more likely to be dis- ease causal variants than synonymous SNPs ...association analysis, we can reduce signal dilution and improve the power of detection of disease ...our ... See full document

5

Evaluation of a LASSO regression approach on the unrelated samples of Genetic Analysis Workshop 17

Evaluation of a LASSO regression approach on the unrelated samples of Genetic Analysis Workshop 17

... The Genetic Analysis Workshop 17 data we used comprise 697 unrelated individuals genotyped at 24,487 single- nucleotide polymorphisms (SNPs) from a mini-exome scan, using real ... See full document

5

Pairwise shared genomic segment analysis in high risk pedigrees: application to Genetic Analysis Workshop 17 exome sequencing SNP data

Pairwise shared genomic segment analysis in high risk pedigrees: application to Genetic Analysis Workshop 17 exome sequencing SNP data

... segment method focused on identifying regions shared by all case subjects in a pedigree; thus it can be sensitive to sporadic cases. Our new method examines sharing among all pairs of case subjects in a high-risk ... See full document

5

Genetic Analysis Workshop 17 mini exome simulation

Genetic Analysis Workshop 17 mini exome simulation

... distributed data and were treated as equally “ real ” as called genotypes in the phe- notype ...a data set that would be useful for developing methods related to gene localization, identifi- cation, ... See full document

9

Analysis of human mini exome sequencing data from Genetic Analysis Workshop 17 using a Bayesian hierarchical mixture model

Analysis of human mini exome sequencing data from Genetic Analysis Workshop 17 using a Bayesian hierarchical mixture model

... hierarchical methods provide an alternative statistical approach for examining genetic sequence data ...These methods have several advantages over single- marker regression ...Bayesian ... See full document

8

Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?

Digging into the extremes: a useful approach for the analysis of rare variants with continuous traits?

... this analysis of the Genetic Analysis Workshop 17 data set, my aim is to detect genes with rare variants that are associated with quantitative traits using two general ... See full document

6

Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data

Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data

... Genetic Analysis Workshop 17 (GAW17) is a colla- borative effort among researchers to improve our current understanding of genetic ...lated data based on real exon ... See full document

7

Search for compound heterozygous effects in exome sequence of unrelated subjects

Search for compound heterozygous effects in exome sequence of unrelated subjects

... variant collapsing procedure for the analysis of DNA sequence ...marker data; then, we collapse nonsynonymous single-nucleotide polymorphisms within genes on each phased haplotype, resulting ... See full document

5

Different approaches for dealing with rare variants in family based genetic studies: application of a Genetic Analysis Workshop 17 problem

Different approaches for dealing with rare variants in family based genetic studies: application of a Genetic Analysis Workshop 17 problem

... for genetic variants that predispose individuals to a phenotype of ...mini-exome data set provided by Genetic Analysis Workshop ...These methods had their sensitivity, ... See full document

6

Confidence set of putative quantitative trait loci in whole genome scans with application to the Genetic Analysis Workshop 17 simulated data

Confidence set of putative quantitative trait loci in whole genome scans with application to the Genetic Analysis Workshop 17 simulated data

... dense genetic maps of single-nucleotide polymorphisms (SNPs) covering the whole ...statistical methods, scientists nowa- days routinely scan the human genome in search of loci that either contribute to the ... See full document

5

Case control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini exome sequence data

Case control association testing by graphical modeling for the Genetic Analysis Workshop 17 mini exome sequence data

... The final estimated graphical model for the first repli- cate is shown in Figure 2. For this data set, our method detected five causal variants on four genes. Our model found three variants associated with disease ... See full document

5

Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data

Detecting functional rare variants by collapsing and incorporating functional annotation in Genetic Analysis Workshop 17 mini exome data

... sequencing data, many investigators have developed association tests to detect disease-associated rare ...lapsing methods combine information across multiple variants in the same genomic block ... See full document

6

Old lessons learned anew: family based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini exome sequence data

Old lessons learned anew: family based methods for detecting genes responsible for quantitative and qualitative traits in the Genetic Analysis Workshop 17 mini exome sequence data

... unrelated data set, so only a subset of the total trait-generating SVs were present in the family data, with rare variants being particularly underrepresented ...SV data. For linkage analysis, ... See full document

6

Collapsing ROC approach for risk prediction research on both common and rare variants

Collapsing ROC approach for risk prediction research on both common and rare variants

... The receiver operating characteristic (ROC) curve is commonly used in genetic risk prediction research to evaluate the accuracy of a risk prediction model. The ROC curve plots the sensitivity of a prediction model ... See full document

5

Identity by descent and association analysis of dichotomous traits based on large pedigrees

Identity by descent and association analysis of dichotomous traits based on large pedigrees

... in genetic research. Recent large GWAS have shown that common genetic variants are involved in common diseases, but most of the variants found in this way account for only a small portion of the trait ... See full document

7

Pathway based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data

Pathway based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data

... the genetic risk score for each individual as the accumulation of minor alleles for all rare variants in a given pathway by exclud- ing the rare ...regression analysis described ... See full document

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