Add to ORKGWe analyzed the use of RefSNP (rs) numbers to identify genetic variants in abstracts of human genetic association studies published from 2001 through 2007. The proportion of abstracts reporting rs numbers increased rapidly but was still only 15% in 2007. We developed a web-based tool called Variant Name Mapper to assist in mapping historical genetic variant names to rs numbers. The consistent use of rs numbers in abstracts that report genetic associations would enhance knowledge synthesis and translation in this field
Population genetics and genomics have developed and been treated as independent fields of study desp...
Background: The increasing volume and complexity of high-throughput genomic data make analysis and p...
As the cost of genomic sequencing continues to fall, the amount of data being collected and studied ...
Genetic association studies and linkage analyses using single nucleotide polymorphisms (SNPs) are ra...
The uniqueness of each human genetic structure motivated the shift from the current practice of medi...
Motivation: Genetic factors determine differences in pharmacokinetics, drug efficacy, and drug respo...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
This talk is based on our paper: Li MJ, Wang P, Liu X, Lim EL, Wang Z, Yeager M, Wong MP, Sham PC, C...
The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized in...
The curation of genomic variants requires collecting evidence not only in variant knowledge bases bu...
The importance of genomic data for health is rapidly growing but accessing and gathering information...
The importance of genomic data for health is rapidly growing but accessing and gathering information...
The reference single nucleotide polymorphism (rs) ID in dbSNP (http://www.ncbi.nlm.nih.gov/SNP/) is ...
As the cost of genomic sequencing continues to fall, the amount of data being collected and studied ...
AbstractSummaryUnderstanding the regulatory roles of non-coding genetic variants has become a centra...
Population genetics and genomics have developed and been treated as independent fields of study desp...
Background: The increasing volume and complexity of high-throughput genomic data make analysis and p...
As the cost of genomic sequencing continues to fall, the amount of data being collected and studied ...
Genetic association studies and linkage analyses using single nucleotide polymorphisms (SNPs) are ra...
The uniqueness of each human genetic structure motivated the shift from the current practice of medi...
Motivation: Genetic factors determine differences in pharmacokinetics, drug efficacy, and drug respo...
Summary: Accurate annotations of genomic variants are necessary to achieve full-genome clinical inte...
This talk is based on our paper: Li MJ, Wang P, Liu X, Lim EL, Wang Z, Yeager M, Wong MP, Sham PC, C...
The uses of the Genome Reference Consortium’s human reference sequence can be roughly categorized in...
The curation of genomic variants requires collecting evidence not only in variant knowledge bases bu...
The importance of genomic data for health is rapidly growing but accessing and gathering information...
The importance of genomic data for health is rapidly growing but accessing and gathering information...
The reference single nucleotide polymorphism (rs) ID in dbSNP (http://www.ncbi.nlm.nih.gov/SNP/) is ...
As the cost of genomic sequencing continues to fall, the amount of data being collected and studied ...
AbstractSummaryUnderstanding the regulatory roles of non-coding genetic variants has become a centra...
Population genetics and genomics have developed and been treated as independent fields of study desp...
Background: The increasing volume and complexity of high-throughput genomic data make analysis and p...
As the cost of genomic sequencing continues to fall, the amount of data being collected and studied ...