
Technologies Genetics Applications Overview LD SNP Mapping Comprehensive Association Oncology Definitions Publications Resources	Comprehensive Association Studies Polymorphisms (SNPs) can be found at modest frequency within the population and are primarily associated with gene-coding and gene-regulatory elements. For example, in breast cancer and cystic fibrosis, many different causative mutations in the BRCA1 and CFTR genes, respectively, are not individually present at high frequencies in the general population. This situation is further complicated by the prediction that many diseases will have a group of SNPs that contributes to the probability of an individual getting a disease. Random sequencing approaches have identified a large number of publicly available high-frequency SNPs in the human genome, but many undiscovered SNPs at lower frequency remain in the human population. Recent advances in genomic sequencing of multiple mammalian species have uncovered a wealth of information about sequence function through cross-species conservation. This new resource informs the researcher where SNPs are most likely to be valuable. Thus, to have the highest chance of gaining value from a program to identify disease-causing SNPs, the best approach is a comprehensive targeted discovery effort that allows SNPs to be discovered and directly genotyped in the conserved and transcribed sequences while indirectly covering the remainder of the genome using linkage disequilibrium. ParAllele has pulled together a world-class cross-disciplinary team with unprecedented experience in design and analysis of genetic association studies. As a result, ParAllele is recognized as one of the premier genetic research organizations. To enable partners to gain the most from a discovery project, the broad expertise of the ParAllele team is available through Discovery Partnerships. What our partners say about Discovery Partnerships "ParAllele's expertise and SNP technologies have the potential to greatly aid our analysis of both the common and the rare mutations that contribute to complex diseases," says Lee E. Babiss, Ph.D., vice president of Preclinical Research and Development at Roche. "Understanding how, as well as which mutations, are involved in diabetes, particularly in protein encoding gene region SNPs, coupled with our expertise in genomics, should enable us to identify patients in the study who are more susceptible to developing diabetes as well as the best drug candidates and diagnostics to pursue for development." Link to 5/21/04 issue of Drug Discovery & Develoopment - Pharma's Apply SNP Discovery to Target Validation "We have been impressed with the scalability and accuracy of ParAllele's assays and the rapid progress we have experienced in collaborating with them on the HapMap project," says Dr. John Belmont, M.D., Ph.D., co-director of Baylor's Cardiovascular Genetics Clinic. "We have chosen ParAllele's technology over the alternatives because the high degree of multiplexing allows us to analyze twice as many SNPs per sample and to complete the study in half the time. This means maximizing the utilization of the patient DNA that we have collected and accelerating the pace at which we can conduct research." For more information about Discovery Partnerships, please call or e-mail . top^
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Technologies

Overview
LD SNP Mapping
Comprehensive Association
Oncology
Definitions

Publications

Resources

Comprehensive Association Studies

Polymorphisms (SNPs) can be found at modest frequency within the population and are primarily associated with gene-coding and gene-regulatory elements. For example, in breast cancer and cystic fibrosis, many different causative mutations in the BRCA1 and CFTR genes, respectively, are not individually present at high frequencies in the general population. This situation is further complicated by the prediction that many diseases will have a group of SNPs that contributes to the probability of an individual getting a disease. Random sequencing approaches have identified a large number of publicly available high-frequency SNPs in the human genome, but many undiscovered SNPs at lower frequency remain in the human population. Recent advances in genomic sequencing of multiple mammalian species have uncovered a wealth of information about sequence function through cross-species conservation. This new resource informs the researcher where SNPs are most likely to be valuable. Thus, to have the highest chance of gaining value from a program to identify disease-causing SNPs, the best approach is a comprehensive targeted discovery effort that allows SNPs to be discovered and directly genotyped in the conserved and transcribed sequences while indirectly covering the remainder of the genome using linkage disequilibrium.

ParAllele has pulled together a world-class cross-disciplinary team with unprecedented experience in design and analysis of genetic association studies. As a result, ParAllele is recognized as one of the premier genetic research organizations. To enable partners to gain the most from a discovery project, the broad expertise of the ParAllele team is available through Discovery Partnerships.

What our partners say about Discovery Partnerships

"ParAllele's expertise and SNP technologies have the potential to greatly aid our analysis of both the common and the rare mutations that contribute to complex diseases," says Lee E. Babiss, Ph.D., vice president of Preclinical Research and Development at Roche. "Understanding how, as well as which mutations, are involved in diabetes, particularly in protein encoding gene region SNPs, coupled with our expertise in genomics, should enable us to identify patients in the study who are more susceptible to developing diabetes as well as the best drug candidates and diagnostics to pursue for development."
Link to 5/21/04 issue of Drug Discovery & Develoopment - Pharma's Apply SNP Discovery to Target Validation

"We have been impressed with the scalability and accuracy of ParAllele's assays and the rapid progress we have experienced in collaborating with them on the HapMap project," says Dr. John Belmont, M.D., Ph.D., co-director of Baylor's Cardiovascular Genetics Clinic. "We have chosen ParAllele's technology over the alternatives because the high degree of multiplexing allows us to analyze twice as many SNPs per sample and to complete the study in half the time. This means maximizing the utilization of the patient DNA that we have collected and accelerating the pace at which we can conduct research."

For more information about Discovery Partnerships, please call or e-mail .

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