M R Nelson
Affiliation: GlaxoSmithKline Research and Development
- The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics researchMatthew R Nelson
GlaxoSmithKline, Research Triangle Park, NC 27709, USA
Am J Hum Genet 83:347-58. 2008..The genotype and demographic data from this reference sample are freely available through the NCBI database of Genotypes and Phenotypes (dbGaP)...
- Amino acid variant in the kinase binding domain of dual-specific A kinase-anchoring protein 2: a disease susceptibility polymorphismStefan Kammerer
Sequenom, Inc, San Diego, CA 92121, USA
Proc Natl Acad Sci U S A 100:4066-71. 2003..Age-stratified samples appear to be useful for screening SNPs to identify functional gene variants that have an impact on health...
- Large-scale validation of single nucleotide polymorphisms in gene regionsMatthew R Nelson
Sequenom Inc, San Diego, California 92121, USA
Genome Res 14:1664-8. 2004..The set of uniquely mapping, polymorphic SNPs is located within 10 kb of 66% of known and predicted genes annotated in LocusLink, which could prove useful for large-scale disease association studies...
- Genome-wide approaches to identify pharmacogenetic contributions to adverse drug reactionsM R Nelson
Pharmacogenetics, GlaxoSmithKline, Research Triangle Park, NC 27709 3398, USA
Pharmacogenomics J 9:23-33. 2009....
- Guidelines for conducting and reporting whole genome/large-scale association studiesMargaret G Ehm
Design and Standards, GlaxoSmithKline, Research Triangle Park, NC, USA
Hum Mol Genet 14:2485-8. 2005
- An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 peopleMatthew R Nelson
Department of Quantitative Sciences, GlaxoSmithKline GSK, Research Triangle Park, NC 27709, USA
Science 337:100-4. 2012..We conclude that because of rapid population growth and weak purifying selection, human populations harbor an abundance of rare variants, many of which are deleterious and have relevance to understanding disease risk...
- Copy number variation in African AmericansJoseph P McElroy
Department of Neurology, University of California, San Francisco, CA, USA
BMC Genet 10:15. 2009..It is important, therefore, to understand the distribution of CNVs within and among populations. This study is the first report of a CNV map in African Americans...
- High-resolution HLA genotyping and severe cutaneous adverse reactions in lamotrigine-treated patientsGbenga R Kazeem
GlaxoSmithKline, Harlow, UK
Pharmacogenet Genomics 19:661-5. 2009..Severe cutaneous adverse reactions (SCARs) are associated with over 200 medicines including lamotrigine, an antiepileptic drug. Previous studies have suggested the involvement of immune mechanisms in the development of drug-induced SCARs...
- Comparison of association methods for dense marker dataSilviu Alin Bacanu
GlaxoSmithKline, Research Triangle Park, North Carolina 27709, USA
Genet Epidemiol 32:791-9. 2008..We also propose an "exact" method to adjust for multiple testing, which yields nominally higher power than the Bonferroni correction...
- Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutationsK Song
Department of Genetics, GlaxoSmithKline, Upper Merion, PA, USA
Pharmacogenomics J 12:425-31. 2012..The cumulative frequency of these null alleles was 0.25%, so <1 in 10,000 Europeans would be expected to be homozygous, and thus not potentially benefit from treatment with an Lp-PLA2 inhibitor...
- How informative is a negative finding in a small pharmacogenetic study?S A Bacanu
GlaxoSmithKline, Research Triangle Park, NC, USA
Pharmacogenomics J 12:93-5. 2012..This approach permits clearer inferences to be made about the possible range of genetic effects that may be present in, or are likely absent from, small drug studies...
- Correlation between genetic and geographic structure in EuropeOscar Lao
Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, 3000 CA Rotterdam, The Netherlands
Curr Biol 18:1241-8. 2008..By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry...
- Association between a variation in LRCH1 and knee osteoarthritis: a genome-wide single-nucleotide polymorphism association study using DNA poolingTim D Spector
Twin Research and Genetic Epidemiology Unit, St Thomas Hospital, London, UK
Arthritis Rheum 54:524-32. 2006..To perform a large-scale association analysis of single-nucleotide polymorphisms (SNPs) in patients with radiographically defined osteoarthritis (OA) of the knee...
- Genome-wide SNP association: identification of susceptibility alleles for osteoarthritisKenneth Abel
Sequenom, Inc, 3595 John Hopkins Court, San Diego, CA, USA 92121
Autoimmun Rev 5:258-63. 2006..These discoveries will expand our understanding of genetic disease predisposition, and our capabilities for early diagnosis and improved therapeutic approaches...
- Large-scale association study identifies ICAM gene region as breast and prostate cancer susceptibility locusStefan Kammerer
Sequenom, Inc, San Diego, California, USA
Cancer Res 64:8906-10. 2004..Because ICAMs are suitable targets for antibodies and small molecules, these findings may not only provide diagnostic and prognostic markers but also new therapeutic opportunities in breast and prostate cancer...
- Haplotyping in biomedicine-practical challengesCharles R Cantor
Institut des Hautes Etudes Scientifiques, Bures-sur-Yvette, France
Nat Biotechnol 23:21-2. 2005
- Association of the NuMA region on chromosome 11q13 with breast cancer susceptibilityStefan Kammerer
Sequenom, Inc, San Diego, CA 92121, USA
Proc Natl Acad Sci U S A 102:2004-9. 2005..Although the potential functional relevance of the A794G variation requires further biological validation, we conclude that variations in the NuMA gene are likely responsible for the observed increased breast cancer risk...
- Association between a variation in the phosphodiesterase 4D gene and bone mineral densityRichard H Reneland
Sequenom, Inc, San Diego, California, USA
BMC Med Genet 6:9. 2005..Bone mineral density (BMD) is a useful surrogate marker for risk of fracture and is a highly heritable trait. The genetic variants underlying this genetic contribution are largely unknown...
- BRAF polymorphisms and risk of melanocytic neoplasiaMichael R James
Queensland Institute of Medical Research, Brisbane, Australia
J Invest Dermatol 125:1252-8. 2005..The burden of disease associated with this variant is greater than that associated with the major melanoma susceptibility locus CDKN2A, which has an estimated attributable risk of 0.2%...
- Maldi-TOF mass spectrometry for trisomy detectionDorothy J Huang
Laboratory of Prenatal Medicine, University Women s Hospital Department of Research, Basel, Switzerland
Methods Mol Biol 444:123-32. 2008..The method described here is based on the MassEXTEND protocol developed by Sequenom, Inc., although any mass spectrometry platform sensitive enough to detect the small difference in mass between SNPs could be applied for this purpose...
- Association of the PDCD5 locus with lung cancer risk and prognosis in smokersMonica Spinola
Department of Experimental Oncology and Laboratories, Thoracic Surgery, Istituto Nazionale Tumori, Milan, Italy
J Clin Oncol 24:1672-8. 2006..Whole-genome scan association analysis was carried out to identify genetic variants predictive of lung cancer risk in smokers and to confirm the identified variants in an independent sample...
- Reliable detection of trisomy 21 using MALDI-TOF mass spectrometryDorothy J Huang
Laboratory for Prenatal Medicine University Women's Hospital, Department of Research Spitalstrasse 21, CH4031 Basel, Switzerland
Genet Med 8:728-34. 2006..Its amenability to high-throughput analysis and high degree of multiplexing make it a potential future diagnostic tool for the detection of other aneuploidies as well...