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Article

From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS.

The Journal of biological chemistry - 22 Jan 2016

Mueller Sabine C, Sommer Björn, Backes Christina, Haas Jan, Meder Benjamin, Meese Eckart, Keller Andreas

Abstract excerpt

Understanding the role of genetics in disease has become a central part of medical research. Non-synonymous single nucleotide variants (nsSNVs) in coding regions of human genes frequently lead to pathological phenotypes. Beyond single variations, the individual combination of nsSNVs may add to pathogenic processes. We developed a multiscale pipeline to systematically analyze the existence of quantitative effects...

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Identifiers

PMID: 26601959
DOI: 10.1074/jbc.M115.695247
PMCID: PMC4722441

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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