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Mashup Score: 3Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes - 5 day(s) ago
In the next decade, advancements in long-read sequencing technologies will facilitate widespread access to complete, haplotype-phased genome assemblies. This will significantly enhance variant discovery, understanding of genetic diversity, and epigenetic characterization, transforming the field of human genetics and our approach to associating genetic variations with diseases.
Source: www.cell.comCategories: General Medicine News, General NewsTweet
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Mashup Score: 2Increasing diversity of functional genetics studies to advance biological discovery and human health - 19 day(s) ago
There is a dearth of genetic and environmental diversity in functional genomics datasets. Research focused on the variant-to-function gap aims to identify molecular QTLs but lacks data from non-European-ancestry populations. We discuss the major barriers and pose actionable suggestions, which aim to empower research and researchers from underserved populations.
Source: www.cell.comCategories: General Medicine News, General NewsTweet
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Mashup Score: 15Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds - 28 day(s) ago
This review examines genomic advances across diverse populations, highlighting reproductive genomics and precision oncology where usage is highest. We discuss primary applications of genetic testing, accessibility, and representativeness across ancestries. To promote equitable benefits and health outcomes, we emphasize the essential integration of genomic advancements with social determinants of health.
Source: www.cell.comCategories: General Medicine News, General NewsTweet
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Mashup Score: 8Will variants of uncertain significance still exist in 2030? - 1 month(s) ago
The authors propose that many, if not most, variants of uncertain significance (VUSs) in coding regions will be resolved by 2030 and outline a confluence of changes making this possible. They note that achieving this goal will depend on the choices made now and in the next few years.
Source: www.cell.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 5Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes - 2 month(s) ago
In the next decade, advancements in long-read sequencing technologies will facilitate widespread access to complete, haplotype-phased genome assemblies. This will significantly enhance variant discovery, understanding of genetic diversity, and epigenetic characterization, transforming the field of human genetics and our approach to associating genetic variations with diseases.
Source: www.cell.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 13Increasing diversity of functional genetics studies to advance biological discovery and human health - 2 month(s) ago
There is a dearth of genetic and environmental diversity in functional genomics datasets. Research focused on the variant-to-function gap aims to identify molecular QTLs but lacks data from non-European-ancestry populations. We discuss the major barriers and pose actionable suggestions, which aim to empower research and researchers from underserved populations.
Source: www.cell.comCategories: General Medicine News, General HCPsTweet
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Mashup Score: 14Will variants of uncertain significance still exist in 2030? - 3 month(s) ago
The authors propose that many, if not most, variants of uncertain significance (VUSs) in coding regions will be resolved by 2030 and outline a confluence of changes making this possible. They note that achieving this goal will depend on the choices made now and in the next few years.
Source: www.cell.comCategories: General Medicine News, General HCPsTweet
AJHG is now celebrating its 75th year with a series of bold predictions framing genetics and genomics for the future https://t.co/FTEWI7DTgo #AJHGat75 @AJHGNews @geneticssociety @khmiga @eichleree https://t.co/8qxDKPP3GY