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Biochemistry and genetics are coming together to improve our understanding of genotype to phenotype relationships

Date

Date

Date
2024
Journal Article
Published version

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Notbohm, J., & Perica, T. (2024). Biochemistry and genetics are coming together to improve our understanding of genotype to phenotype relationships. Current Opinion in Structural Biology, 89, 102952. https://doi.org/10.1016/j.sbi.2024.102952

Abstract

Abstract

Abstract

Since genome sequencing became accessible, determining how specific differences in genotypes lead to complex phenotypes such as disease has become one of the key goals in biomedicine. Predicting effects of sequence variants on cellular or organismal phenotype faces several challenges. First, variants simultaneously affect multiple protein properties and predicting their combined effect is complex. Second, effects of changes in a single protein propagate through the cellular network, which we only partially understand. In this review,

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Acq. date: 2025-11-12

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Creators (Authors)

  • Notbohm, Judith
    affiliation.icon.alt
  • Perica, Tina
    affiliation.icon.alt

Journal/Series Title

Journal/Series Title

Journal/Series Title

Volume

Volume

Volume
89

Page range/Item number

Page range/Item number

Page range/Item number
102952

Item Type

Item Type

Item Type
Journal Article

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Language

Language

Language
English

Publication date

Publication date

Publication date
2024-12

Date available

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Date available
2024-11-26

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Publisher

Publisher

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0959-440X

OA Status

OA Status

OA Status
Hybrid

Free Access at

Free Access at

Free Access at
DOI

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PubMed ID

PubMed ID

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Downloads

46 since deposited on 2024-11-26
23last week
Acq. date: 2025-11-12

Views

71 since deposited on 2024-11-26
70last week
Acq. date: 2025-11-12

Citations

Citations

Citation copied

Notbohm, J., & Perica, T. (2024). Biochemistry and genetics are coming together to improve our understanding of genotype to phenotype relationships. Current Opinion in Structural Biology, 89, 102952. https://doi.org/10.1016/j.sbi.2024.102952

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