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Institution

Myriad Genetics

CompanyMunich, 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..


Papers
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Journal ArticleDOI
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

Patent
16 Oct 2007
TL;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

Journal ArticleDOI
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

Journal Article
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

Patent
05 Feb 2004
Abstract: 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

NameH-indexPapersCitations
Richard D. Smith140118079758
Rosalind A. Eeles10654445058
David E. Goldgar10341950450
Mark H. Pollack8946426511
Jacques Simard8340928493
Julian R. Sampson7121222192
Johanna M. Rommens7120242630
David A. Frank6820117557
Sean V. Tavtigian6519435641
Mark H. Skolnick6421130548
Lisa A. Cannon-Albright6232728945
Alexander Gutin5416717705
Dominic P. Williams491346665
Nelleke A. Gruis4915913080
Nicola J. Camp462137772
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
20221
202139
202043
201930
201827
201724