Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies DOI Creative Commons
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat

и другие.

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Март 3, 2025

Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made identifying causative genes of numerous monogenic disorders, largely due to widespread adoption next‐generation sequencing (NGS) technologies both research and clinical settings. However, many likely disorders still lack an accurate molecular diagnosis, primarily because conventional NGS methods are not effective at detecting structural variants repeat expansions, which crucial neurogenetic diseases. Recently, long‐read (LRS) optical genome mapping have emerged as powerful tools, offering ability capture more complex genetic variations. These already led discovery novel responsible for well‐characterized diseases (ND), enhancing understanding biological underpinning these conditions. Although currently LRS is mostly used setting, we anticipate broader implementation laboratories near future. In this review, explore contributions ND highlight remaining challenges future advancements. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf International Parkinson Disorder Society. This article contributed U.S. Government employees their work public domain USA.

Язык: Английский

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies DOI Creative Commons
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat

и другие.

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Март 3, 2025

Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made identifying causative genes of numerous monogenic disorders, largely due to widespread adoption next‐generation sequencing (NGS) technologies both research and clinical settings. However, many likely disorders still lack an accurate molecular diagnosis, primarily because conventional NGS methods are not effective at detecting structural variants repeat expansions, which crucial neurogenetic diseases. Recently, long‐read (LRS) optical genome mapping have emerged as powerful tools, offering ability capture more complex genetic variations. These already led discovery novel responsible for well‐characterized diseases (ND), enhancing understanding biological underpinning these conditions. Although currently LRS is mostly used setting, we anticipate broader implementation laboratories near future. In this review, explore contributions ND highlight remaining challenges future advancements. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf International Parkinson Disorder Society. This article contributed U.S. Government employees their work public domain USA.

Язык: Английский

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