An accurate clone-based haplotyping method by overlapping pool sequencing
نویسندگان
چکیده
منابع مشابه
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...
متن کاملClone-based systematic haplotyping (CSH): a procedure for physical haplotyping of whole genomes.
We present a novel methodology to determine the phase of single-nucleotide polymorphisms (SNPs) on a chromosome, which we term clone-based systematic haplotyping (CSH). The CSH procedure is based on separating the allelic chromosomes of a diploid genome by fosmid/cosmid cloning, and subsequent SNP typing of 96 clone pools, each representing approximately 10% of the genome. The pools are screene...
متن کاملClinical validation of a haplotyping method with next-generation sequencing.
One of the most persistent problems in clinical genetic testing is interpretation of compound heterozygotes. Particularly problematic are reces-sive genes for which compound heterozygosity is relatively common, such as CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), the gene responsible for Ͼ90% of congenital adrenal hyperplasia (CAH) 1 cases. Next-generation se-quencing (NGS)...
متن کاملAccurate 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 ...
متن کاملAn efficient haplotyping method with DNA pools.
Determination of haplotype frequencies (the joint distribution of genetic markers) in large population samples is a powerful tool for association studies. This is due to their greater extent of polymorphism since any two bi-allelic single nucleotide polymorphisms (SNPs) generate a potential four-allele genetic marker. Therefore, a haplotype may capture a given functional polymorphism with highe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 2016
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/gkw284