Accurate estimation of haplotype frequency from pooled sequencing data and cost-effective identification of rare haplotype carriers by overlapping pool sequencing

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Accurate estimation of haplotype frequency from pooled sequencing data and cost-effective identification of rare haplotype carriers by overlapping pool sequencing

MOTIVATION A variety of hypotheses have been proposed for finding the missing heritability of complex diseases in genome-wide association studies. Studies have focused on the value of haplotype to improve the power of detecting associations with disease. To facilitate haplotype-based association analysis, it is necessary to accurately estimate haplotype frequencies of pooled samples. RESULTS ...

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Identification and Frequency Estimation of Inversion Polymorphisms from Haplotype Data

Structural rearrangements, including copy-number alterations and inversions, are increasingly recognized as an important contributor to human genetic variation. Copy number variants are readily measured via array-based techniques like comparative genomic hybridization, but copy-neutral variants such as inversion polymorphisms remain difficult to identify without whole genome sequencing. We intr...

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An accurate clone-based haplotyping method by overlapping pool sequencing

Chromosome-long haplotyping of human genomes is important to identify genetic variants with differing gene expression, in human evolution studies, clinical diagnosis, and other biological and medical fields. Although several methods have realized haplotyping based on sequencing technologies or population statistics, accuracy and cost are factors that prohibit their wide use. Borrowing ideas fro...

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Evaluation of Allele Frequency Estimation Using Pooled Sequencing Data Simulation

Next-generation sequencing (NGS) technology has provided researchers with opportunities to study the genome in unprecedented detail. In particular, NGS is applied to disease association studies. Unlike genotyping chips, NGS is not limited to a fixed set of SNPs. Prices for NGS are now comparable to the SNP chip, although for large studies the cost can be substantial. Pooling techniques are ofte...

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PoolHap: Inferring Haplotype Frequencies from Pooled Samples by Next Generation Sequencing

With the advance of next-generation sequencing (NGS) technologies, increasingly ambitious applications are becoming feasible. A particularly powerful one is the sequencing of polymorphic, pooled samples. The pool can be naturally occurring, as in the case of multiple pathogen strains in a blood sample, multiple types of cells in a cancerous tissue sample, or multiple isoforms of mRNA in a cell....

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2014

ISSN: 1367-4803,1460-2059

DOI: 10.1093/bioinformatics/btu670