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Victoria M. Pratt

dblp:164/0901 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2015
—ORCID · unresolved

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 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
pharmacogenomics
0.212015
Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data · Bioinform. 2015
Bioinformatics and computational biology › sequence analysis
high-throughput sequencing data analysis
0.112015
Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data · Bioinform. 2015

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

simulated data validation · 0.2genotyping algorithm · 0.2
YearPublicationVenuePosition
2015 Cypiripi: exact genotyping of CYP2D6 using high-throughput sequencing data
abstract
MOTIVATION: CYP2D6 is highly polymorphic gene which encodes the (CYP2D6) enzyme, involved in the metabolism of 20-25% of all clinically prescribed drugs and other xenobiotics in the human body. CYP2D6 genotyping is recommended prior to treatment decisions involving one or more of the numerous drugs sensitive to CYP2D6 allelic composition. In this context, high-throughput sequencing (HTS) technologies provide a promising time-efficient and cost-effective alternative to currently used genotyping techniques. To achieve accurate interpretation of HTS data, however, one needs to overcome several obstacles such as high sequence similarity and genetic recombinations between CYP2D6 and evolutionarily related pseudogenes CYP2D7 and CYP2D8, high copy number variation among individuals and short read lengths generated by HTS technologies. RESULTS: In this work, we present the first algorithm to computationally infer CYP2D6 genotype at basepair resolution from HTS data. Our algorithm is able to resolve complex genotypes, including alleles that are the products of duplication, deletion and fusion events involving CYP2D6 and its evolutionarily related cousin CYP2D7. Through extensive experiments using simulated and real datasets, we show that our algorithm accurately solves this important problem with potential clinical implications. AVAILABILITY AND IMPLEMENTATION: Cypiripi is available at http://sfu-compbio.github.io/cypiripi.
Ibrahim Numanagic, Salem Malikic, Victoria M. Pratt, Todd C. Skaar, David A. Flockhart, Süleyman Cenk Sahinalp
Bioinform.3