Publications by authors named "Mark Santcroos"

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.

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Article Synopsis
  • Cysteine-altering missense variants in the NOTCH3 protein cause NOTCH3-associated small vessel disease (NOTCH3-SVD), which shows a wide range of severity, including severe conditions like CADASIL and milder cases.
  • The study aimed to enhance risk prediction for NOTCH3-SVD by analyzing differences in NOTCH3cys variant frequencies across various EGFr domains, categorizing them into low, medium, or high-risk classifications.
  • The findings revealed that certain EGFr domains (1-6, 8, 11, and 26) were associated with a significantly higher stroke risk compared to others, indicating the potential for genotype-based risk stratification in clinical settings.
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Scientific research has become very data and compute intensive because of the progress in data acquisition and measurement devices, which is particularly true in Life Sciences. To cope with this deluge of data, scientists use distributed computing and storage infrastructures. The use of such infrastructures introduces by itself new challenges to the scientists in terms of proper and efficient use.

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European laws on privacy and data security are not explicit about the storage and processing of genetic data. Especially whole-genome data is identifying and contains a lot of personal information. Is processing of such data allowed in computing grids? To find out, we looked at legal precedents in related fields, current literature, and interviews with legal experts.

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