作者
Nik Cummings, Rob King, Andre Rickers, Antony Kaspi, Sebastian Lunke, Izhak Haviv, Jeremy BM Jowett
发表日期
2010/12
期刊
BMC genomics
卷号
11
页码范围
1-8
出版商
BioMed Central
简介
Background
The primary goal of genetic linkage analysis is to identify genes affecting a phenotypic trait. After localisation of the linkage region, efficient genetic dissection of the disease linked loci requires that functional variants are identified across the loci. These functional variations are difficult to detect due to extent of genetic diversity and, to date, incomplete cataloguing of the large number of variants present both within and between populations. Massively parallel sequencing platforms offer unprecedented capacity for variant discovery, however the number of samples analysed are still limited by cost per sample. Some progress has been made in reducing the cost of resequencing using either multiplexing methodologies or through the utilisation of targeted enrichment technologies which provide the ability to resequence genomic areas of interest rather that full genome sequencing …
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