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Statistical challenges associated with detecting copy number variations with next-generation sequencing
MOTIVATION Analysing next-generation sequencing (NGS) data for copy number variations (CNVs) detection is a relatively new and challenging field, with no accepted standard protocols or qualityExpand
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How Many Genetic Variants Remain to Be Discovered?
A great majority of genetic markers discovered in recent genome-wide association studies have small effect sizes, and they explain only a small fraction of the genetic contribution to the diseases.Expand
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The success of the genome-wide association approach: a brief story of a long struggle
The genome-wide association approach has been the most powerful and efficient study design thus far in identifying genetic variants that are associated with complex human diseases. This approachExpand
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Frequency of Cytochrome P450 2C9 (CYP2C9) Alleles in Three Ethnic Groups in Malaysia
Cytochrome P450 2C9 (CYP2C9) is the major enzyme involved in the metabolism of S-warfarin, an oral anticoagu- lant drug. Genetic polymorphisms of CYP2C9 gene have been reported and may playExpand
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Identification of recurrent regions of copy-number variants across multiple individuals
BackgroundAlgorithms and software for CNV detection have been developed, but they detect the CNV regions sample-by-sample with individual-specific breakpoints, while common CNV regions are likely toExpand
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Frequency of Cytochrome P 450 2 C 9 ( CYP 2 C 9 ) Alleles in Three Ethnic Groups in Malaysia
Cytochrome P450 2C9 (CYP2C9) is the major enzyme involved in the metabolism of S-warfarin, an oral anticoagulant drug. Genetic polymorphisms of CYP2C9 gene have been reported and may play significantExpand
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High‐Throughput Single Nucleotide Polymorphisms Genotyping Technologies
Genome-wide association studies have successfully identified many novel genetic loci for various human complex diseases and quantitative traits. There are several important factors contributing toExpand
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Exome diagnostics: already a reality?
The power of massively parallel sequencing (MPS) combined with target enrichment technologies has led, in the space of barely 2 years, to a true revolution in our ability to explore the genome forExpand
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