Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.
A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk ...
Apr 2, 2024
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96
A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Mar 28, 2024
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50
A new study led by investigators from Massachusetts General Hospital assesses for the first time the quality of daily life for people with Down syndrome (DS) in 50 countries around the world.
Mar 22, 2024
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1
Should we be using polygenic risk score assessment for embryo selection? Providing in-depth analysis, the Social, Ethical and Legal Issues Committee of the American College of Medical Genetics and Genomics (ACMG) has released ...
Feb 23, 2024
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Genetic confirmation of the suspected diagnosis of "hereditary colorectal cancer" is of great importance for the medical care of affected families. However, many of the variants identified in the known genes cannot currently ...
Dec 7, 2023
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Cancer genomics experts at City of Hope, one of the largest cancer research and treatment organizations in the United States, conducted a qualitative study that underscored the importance of properly preparing patients for ...
Nov 16, 2023
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An international workgroup of genetics and cancer experts convened by the American College of Medical Genetics and Genomics (ACMG) has published a highly anticipated and detailed clinical practice resource on CHEK2 pathogenic ...
Jul 25, 2023
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6
Manchester researchers have developed a way to improve the accuracy of breast cancer genetic testing for women from Ashkenazi Jewish backgrounds.
Jul 3, 2023
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30
The American College of Medical Genetics and Genomics (ACMG) has released its highly anticipated 2023 update to the recommended minimum gene list for the reporting of secondary findings (SF): "ACMG SF v3.2 List for Reporting ...
Jun 22, 2023
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2
The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening. Pathogenic variants in the CFTR gene can cause cystic fibrosis (CF) as well as CF-related disorders. ...
Jun 13, 2023
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2
