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Mark A. Santcroos

dblp:309/8427 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2023
0000-0001-8414-2548ORCID · reported

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

Applied, interdisciplinary, general and emerging computing · 1 · 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 1 heaviest of 1, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › genomics
genetic variant analysis
0.712023
A Boolean algebra for genetic variants · Bioinform. 2023

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

minimal alignment algorithm · 0.7
YearPublicationVenuePosition
2023 A Boolean algebra for genetic variants
abstract
MOTIVATION: Beyond identifying genetic variants, we introduce a set of Boolean relations, which allows for a comprehensive classification of the relations of every pair of variants by taking all minimal alignments into account. We present an efficient algorithm to compute these relations, including a novel way of efficiently computing all minimal alignments within the best theoretical complexity bounds. RESULTS: We show that these relations are common, and many non-trivial, for variants of the CFTR gene in dbSNP. Ultimately, we present an approach for the storing and indexing of variants in the context of a database that enables efficient querying for all these relations. AVAILABILITY AND IMPLEMENTATION: A Python implementation is available at https://github.com/mutalyzer/algebra/tree/v0.2.0 as well as an interface at https://mutalyzer.nl/algebra.
Jonathan K. Vis, Mark A. Santcroos, Walter A. Kosters, Jeroen F. J. Laros
Bioinform.2