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Mashup Score: 2Words matter: The language of difference in human genetics - 1 year(s) ago
Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which is focused on identifying and explaining differences between individuals and populations. Recent guidance on the use of terms and symbols in clinical…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 4Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies - 1 year(s) ago
The congenital Long QT Syndrome (LQTS) and Brugada Syndrome (BrS) are Mendelian autosomal dominant diseases which frequently precipitate fatal cardiac arrhythmias. Incomplete penetrance is a barrier to clinical management of heterozygotes harboring variants in the major implicated disease genes KCNQ1, KCNH2, and SCN5A. We apply and evaluate a Bayesian penetrance estimation strategy that accounts…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 3Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort - 1 year(s) ago
Expanded pan-ethnic carrier screening is an effective tool for the management of reproductive risk. However, growth in the number of conditions screened, in combination with increasingly more comprehensive test methodologies, can lead to the detection of genetic findings that may affect the health of the tested individual. The objective of this study was to investigate the frequency of pathogenic…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0
Genetics professionals understand that variant classifications are not static and can change over time. Reclassifications may occur in response to changes in evidence, new or modified approaches to weighing the evidence, and/or changes in the overall systems used to classify variants. How should other laboratories be notified about proposed reclassifications or even the original classifications…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency - 1 year(s) ago
Witteveen-Kolk syndrome (WITKOS) is a rare, autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function alterations in the SIN3A gene. WITKOS has variable expressivity that commonly overlaps with other neurodevelopmental disorders. In this study, we characterized a distinct DNA methylation epigenetic signature (episignature) distinguishing WITKOS from unaffected…
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 1Ethical Issues in the Dissemination of Genomic Science: Perspectives from Genetics in Medicine - 2 year(s) ago
Important update Dear researchers: Thank you for being interested in this webinar. We are sorry to inform you that the live webinar will not be streamed on this platform due to some technical issues. Please kindly locate the new registration page listed below: Register here. We sincerely apologize for any inconvenience this may cause. The on-demand webinar will be uploaded to this page after the…
Source: Elsevier Researcher AcademyCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0October 2022: A points to consider statement of the ACMG - 2 year(s) ago
AUDIO October 4, 2022 …
Source: www.gimjournal.orgCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 0Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020 - 2 year(s) ago
Genetic testing is a tool used in a variety of settings for medical and nonhealth related purposes. The goal of this analysis was to better understand the awareness and use of genetic testing in the United States.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 9Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome - 2 year(s) ago
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in females. Whole-gene deletion and loss-of-function variants in TBX6 have been identified in association with MRKHS. We aimed to expand the spectrum of TBX6 variants in MRKHS and explore the biological effect of the variant alleles.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet
Genetics in Medicine is committed to the use of language that is respectful, scientifically rigorous, and ethically sound. #DEI #Inclusivity @mildredkcho @kylebrothers @chromosomeOMICS https://t.co/bPLiFLsefq https://t.co/JP1FUYodQa