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Mashup Score: 0Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield - 1 year(s) ago
To investigate the impact of rapid-turnaround exome sequencing in critically ill neonates using phenotype-based subject selection criteria.
Source: Genetics in MedicineCategories: Hem/Oncs, Latest HeadlinesTweet
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Mashup Score: 0
Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include.
Source: Genetics in MedicineCategories: Hem/Oncs, Latest HeadlinesTweet-
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients https://t.co/0xnTTf3eG3 via @ecpolley et al
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Mashup Score: 0The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom - 1 year(s) ago
The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cost of using genome sequencing in routine clinical care in patients with cancer or rare diseases.
Source: Genetics in MedicineCategories: Hem/Oncs, Latest HeadlinesTweet-
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom https://t.co/qmtz69Q0md via @jbuchanan_ox et al https://t.co/59BIt2dMgS
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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-
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
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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-
#Bayesian penetrance estimates provide a continuous framework for variant interpretation in cardiac #channelopathies https://t.co/AUYh1udMeI https://t.co/Zm3hC7rhOM
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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-
Nearly 1% of individuals undergoing genomic carrier screening will have a finding that may require clinical evaluation or surveillance #carrier #screening https://t.co/LMl0q3qe6Z https://t.co/mmRvktplKt
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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-
It may take more than two to TANGO2: Comprehensive natural history study of 73 patients with TANGO2 deficiency disorder from 17 different countries! https://t.co/VQYN2KaICu https://t.co/rV4nGwN1cq
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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-
Genomic variant classifications are not static: Can the US implement a consensus framework for variant reclassification? What can we learn from the work of the Cancer Variant Interpretation Group UK (CanVIG-UK)? https://t.co/IYP5o13SjR https://t.co/6FGLJcf9iW
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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-
Novel #epigenetic signature for Witteveen-Kolk syndrome can help identify and diagnose individuals. #methylation https://t.co/7nfsdOZQN3 https://t.co/7qdmaKwarR
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Mashup Score: 0
Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include.
Source: Genetics in MedicineCategories: Genetics, Latest HeadlinesTweet-
@GIMJournal Editor’s Choice: A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients @TheACMG @AmbryGenetics https://t.co/0OB2IaqBHp https://t.co/gca6TIu1iX
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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield https://t.co/XBrXi8t3Ss via @GenomeDoc et al