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Lora J. H. Bean

dblp:09/7068 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2008
—ORCID · none

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

Applied, interdisciplinary, general and emerging computing · 1

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 4 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genotyping
0.112008
Smarter clustering methods for SNP genotype calling · Bioinform. 2008
Bioinformatics and computational biology › gene expression analysis
model-based clustering
0.112008
Smarter clustering methods for SNP genotype calling · Bioinform. 2008
Bioinformatics and computational biology › statistical genetics › genotype calling
SNP genotype calling
0.112008
Smarter clustering methods for SNP genotype calling · Bioinform. 2008
Bioinformatics and computational biology › statistical genetics
pedigree analysis
0.012008
Smarter clustering methods for SNP genotype calling · Bioinform. 2008

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

likelihood-based method · 0.1k-means · 0.1gaussian mixture model · 0.1beta mixture model · 0.1
YearPublicationVenuePosition
2008 Smarter clustering methods for SNP genotype calling
abstract
MOTIVATION: Most genotyping technologies for single nucleotide polymorphism (SNP) markers use standard clustering methods to 'call' the SNP genotypes. These methods are not always optimal in distinguishing the genotype clusters of a SNP because they do not take advantage of specific features of the genotype calling problem. In particular, when family data are available, pedigree information is ignored. Furthermore, prior information about the distribution of the measurements for each cluster can be used to choose an appropriate model-based clustering method and can significantly improve the genotype calls. One special genotyping problem that has never been discussed in the literature is that of genotyping of trisomic individuals, such as individuals with Down syndrome. Calling trisomic genotypes is a more complicated problem, and the addition of external information becomes very important. RESULTS: In this article, we discuss the impact of incorporating external information into clustering algorithms to call the genotypes for both disomic and trisomic data. We also propose two new methods to call genotypes using family data. One is a modification of the K-means method and uses the pedigree information by updating all members of a family together. The other is a likelihood-based method that combines the Gaussian or beta-mixture model with pedigree information. We compare the performance of these two methods and some other existing methods using simulation studies. We also compare the performance of these methods on a real dataset generated by the Illumina platform (www.illumina.com). AVAILABILITY: The R code for the family-based genotype calling methods (SNPCaller) is available to be downloaded from the following website: http://watson.hgen.pitt.edu/register.
George C. Tseng, Soo Yeon Cheong, Lora J. H. Bean, Stephanie L. Sherman, Eleanor Feingold
Bioinform.4