Structural biology in variant interpretation: Perspectives and practices from two studies DOI Creative Commons
Matthew J. Varga, Marcy E. Richardson,

Adam Chamberlin

и другие.

The American Journal of Human Genetics, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Structural biology offers a powerful lens through which to assess genetic variants by providing insights into their impact on clinically relevant protein structure and function. Due the availability of new, user-friendly, web-based tools, structural analyses wider audiences have become more mainstream. These new including AlphaMissense AlphaFold, recently been in limelight due initial success projected future promise; however, intricacies limitations using these tools still need be disseminated general audience that is likely use them variant analysis. Here, we expound frameworks applying interpretation examining two accompanying articles. To this end, explore nuances choosing correct model, compare contrast various approaches, highlight both advantages employing interpretation. Using articles published issue The American Journal Human Genetics as baseline, focus case studies TP53 BRCA1 illuminate gene-specific differences applications information, illustrate complexities inherent field. Additionally, discuss implications recent advancements, such provide practical guidance for researchers navigating biology.

Язык: Английский

Structural biology in variant interpretation: Perspectives and practices from two studies DOI Creative Commons
Matthew J. Varga, Marcy E. Richardson,

Adam Chamberlin

и другие.

The American Journal of Human Genetics, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Structural biology offers a powerful lens through which to assess genetic variants by providing insights into their impact on clinically relevant protein structure and function. Due the availability of new, user-friendly, web-based tools, structural analyses wider audiences have become more mainstream. These new including AlphaMissense AlphaFold, recently been in limelight due initial success projected future promise; however, intricacies limitations using these tools still need be disseminated general audience that is likely use them variant analysis. Here, we expound frameworks applying interpretation examining two accompanying articles. To this end, explore nuances choosing correct model, compare contrast various approaches, highlight both advantages employing interpretation. Using articles published issue The American Journal Human Genetics as baseline, focus case studies TP53 BRCA1 illuminate gene-specific differences applications information, illustrate complexities inherent field. Additionally, discuss implications recent advancements, such provide practical guidance for researchers navigating biology.

Язык: Английский

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