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Nora Scherer

dblp:303/1518 · DBLP profile ↗
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1ranked-venue papers
1as first author
1since 2021 · last 2021
0000-0001-7057-7663ORCID · reported

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genome-wide association study
0.512021
pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS · Bioinform. 2021
Bioinformatics and computational biology › statistical genetics
quantitative trait locus analysis
0.512021
pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS · Bioinform. 2021
Bioinformatics and computational biology
statistical genetics
0.512021
pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS · Bioinform. 2021

Methods — techniques the papers use, named apart from their topics

simulation · 0.5interpolation · 0.5
YearPublicationVenuePosition
2021 pgainsim: an R-package to assess the mode of inheritance for quantitative trait loci in GWAS
abstract
MOTIVATION: When performing genome-wide association studies conventionally the additive genetic model is used to explore whether a single nucleotide polymorphism (SNP) is associated with a quantitative trait. But for variants, which do not follow an intermediate mode of inheritance (MOI), the recessive or the dominant genetic model can have more power to detect associations and furthermore the MOI is important for downstream analyses and clinical interpretation. When multiple MOIs are modelled the question arises, which describes the true underlying MOI best. RESULTS: We developed an R-package allowing for the first time to determine study specific critical values when one of the three models is more informative than the other ones for a quantitative trait locus. The package allows for user-friendly simulations to determine these critical values with predefined minor allele frequencies and study sizes. For application scenarios with extensive multiple testing we integrated an interpolation functionality to determine critical values already based on a moderate number of random draws. AVAILABILITY AND IMPLEMENTATION: The R-package pgainsim is freely available for download on Github at https://github.com/genepi-freiburg/pgainsim. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Nora Scherer, Peggy Sekula, Peter Pfaffelhuber, Pascal Schlosser
Bioinform.1