Institution
Myriad Genetics
Company•Munich, Germany•
About: Myriad Genetics is a company organization based out in Munich, Germany. It is known for research contribution in the topics: Cancer & Breast cancer. The organization has 562 authors who have published 586 publications receiving 56046 citations. The organization is also known as: Myriad Genetics, Inc..
Topics: Cancer, Breast cancer, Gene, Population, Prostate cancer
Papers published on a yearly basis
Papers
More filters
••
TL;DR: The heterogeneity tlod and two‐point hlod scores correlated highly across the genome, as expected, but the het‐tlod had a lower number false positives and handled missing data better, as would be expected for a multipoint method.
Abstract: Classical parametric two-point linkage analysis is a powerful analysis tool, however there are clear disadvantages too, including the sensitivity to allele frequency mis-specification. Conversely, multipoint linkage analysis is not sensitive to allele frequency mis-specification, but it is sensitive to genetic model mis-specification. Goring and Terwilliger [Am J Hum Genet 66:1095-106, 2000] proposed a new robust multipoint statistic that increased the robustness of multipoint analyses. In this paper we have referred to this new statistic as the tlod. We applied this new statistic to the Genetic Analysis Workshop (GAW) 12 data using affected status (AFF) as the phenotype of interest. The heterogeneity tlod and two-point hlod scores correlated highly across the genome (p < 0.0001), as expected, but the het-tlod had a lower number false positives. In addition, the tlod analysis handled missing data better, as would be expected for a multipoint method. When one-third of the genotype data was removed (dead people) the tlod analysis was less affected than the two-point analysis. When tlod scores were compared with multipoint lod scores in true gene locations, the robustness of the tlod to model mis-specification was clearly evident. When the "best" replicate from the general population was analyzed, a borderline genome-wide significant two-point hlod result (3.6) was found 4 cM from MG6 and MG7 on chromosome 6. The heterogeneity tlod score was lower than the two-point hlod score (1.8), but greater than the heterogeneity multipoint lod score (0.4). However, when replicate 1 of the isolated population was analyzed none of the true gene locations were identified with either statistic.
27 citations
•
16 Oct 2007TL;DR: In this article, the authors describe compounds, pharmaceutical compositions and methods useful for treating viral infection, which relates to compounds and pharmaceutical compositions useful for treatment of viral infection in medical applications.
Abstract: The invention relates to compounds, pharmaceutical compositions and methods useful for treating viral infection.
27 citations
••
TL;DR: Modern NGS and variant interpretation enable accurate sequencing-based CF screening, andLimiting screening to 23 variants does not improve analytical validity, clinical validity, or clinical utility, but does fail to detect approximately 30% of ARCs.
26 citations
•
TL;DR: A highly automated genetic test developed and high risk populations have been screened to establish the utility of the test and the value to women and preliminary clinically recommendations are discussed.
25 citations
•
05 Feb 2004Abstract: The invention provides compositions and methods for treating neurodegenerative disorders A method of the invention involves administering to an individual in need of treatment a composition having an R-NSAID and an NMDA antagonist Another method of the invention involves administering to an individual in need of treatment a composition having at least two compounds that are capable of interacting with CYP2C9, wherein at least one of said compounds is an Aβ42 lowering agent The methods and compositions of the invention are useful for treating and preventing neurodegenerative disorders like Alzheimer's disease, dementia, mild cognitive impairment
25 citations
Authors
Showing all 562 results
Name | H-index | Papers | Citations |
---|---|---|---|
Richard D. Smith | 140 | 1180 | 79758 |
Rosalind A. Eeles | 106 | 544 | 45058 |
David E. Goldgar | 103 | 419 | 50450 |
Mark H. Pollack | 89 | 464 | 26511 |
Jacques Simard | 83 | 409 | 28493 |
Julian R. Sampson | 71 | 212 | 22192 |
Johanna M. Rommens | 71 | 202 | 42630 |
David A. Frank | 68 | 201 | 17557 |
Sean V. Tavtigian | 65 | 194 | 35641 |
Mark H. Skolnick | 64 | 211 | 30548 |
Lisa A. Cannon-Albright | 62 | 327 | 28945 |
Alexander Gutin | 54 | 167 | 17705 |
Dominic P. Williams | 49 | 134 | 6665 |
Nelleke A. Gruis | 49 | 159 | 13080 |
Nicola J. Camp | 46 | 213 | 7772 |