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Androniki Menelaou

dblp:123/3728 · DBLP profile ↗
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1ranked-venue papers
1as first author
0since 2021 · last 2013
—ORCID · none

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

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

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 · 92% Computational science and engineering · 8%

Topics — the 5 heaviest of 5, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › statistical genetics
genotype calling
0.212013
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold · Bioinform. 2013
Bioinformatics and computational biology › statistical genetics › haplotype analysis
genotype phasing
0.212013
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold · Bioinform. 2013
Bioinformatics and computational biology › population genetics
population genomics
0.212013
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold · Bioinform. 2013
Computational science and engineering › statistical computing
data imputation
0.012013
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold · Bioinform. 2013
Bioinformatics and computational biology › genomics
genome-wide association study
0.012013
Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold · Bioinform. 2013

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

multivariate normal model · 0.2haplotype scaffold · 0.2MCMC · 0.2
YearPublicationVenuePosition
2013 Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold
abstract
MOTIVATION: Given the current costs of next-generation sequencing, large studies carry out low-coverage sequencing followed by application of methods that leverage linkage disequilibrium to infer genotypes. We propose a novel method that assumes study samples are sequenced at low coverage and genotyped on a genome-wide microarray, as in the 1000 Genomes Project (1KGP). We assume polymorphic sites have been detected from the sequencing data and that genotype likelihoods are available at these sites. We also assume that the microarray genotypes have been phased to construct a haplotype scaffold. We then phase each polymorphic site using an MCMC algorithm that iteratively updates the unobserved alleles based on the genotype likelihoods at that site and local haplotype information. We use a multivariate normal model to capture both allele frequency and linkage disequilibrium information around each site. When sequencing data are available from trios, Mendelian transmission constraints are easily accommodated into the updates. The method is highly parallelizable, as it analyses one position at a time. RESULTS: We illustrate the performance of the method compared with other methods using data from Phase 1 of the 1KGP in terms of genotype accuracy, phasing accuracy and downstream imputation performance. We show that the haplotype panel we infer in African samples, which was based on a trio-phased scaffold, increases downstream imputation accuracy for rare variants (R2 increases by >0.05 for minor allele frequency <1%), and this will translate into a boost in power to detect associations. These results highlight the value of incorporating microarray genotypes when calling variants from next-generation sequence data. AVAILABILITY: The method (called MVNcall) is implemented in a C++ program and is available from http://www.stats.ox.ac.uk/∼marchini/#software.
Androniki Menelaou, Jonathan Marchini
Bioinform.1