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Mashup Score: 191Single-cell genomics meets human genetics - Nature Reviews Genetics - 2 month(s) ago
In this Review, the authors describe the emerging field of single-cell genetics, which lies at the intersection of single-cell genomics and human genetics. They review the first single-cell expression quantitative trait loci studies, which combine single-cell information with genotype data at the population scale and thereby link genetic variation to the cellular processes underpinning key…
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 3The expanding diagnostic toolbox for rare genetic diseases - Nature Reviews Genetics - 2 month(s) ago
Genomic technologies have greatly improved the diagnosis of rare genetic diseases. Here, the authors review emerging approaches for the identification of disease-causal genetic variants as well as omic technologies that show great potential for variant interpretation.
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 15Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans - Nature Reviews Genetics - 2 month(s) ago
This Review explores the use of non-mammalian model organisms in the genetic diagnosis of rare diseases, focusing on the use of worms, flies and zebrafish. The strategies, genetic technologies and approaches to using these models are discussed, as well as how they can provide insight into more common disease mechanisms.
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 38
In this Review, the authors summarize the current evidence for the use of genomic sequencing in newborn screening for rare diseases. As several large-scale studies launch internationally, the authors discuss major challenges and opportunities that lie ahead and identify key research priorities.
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Mashup Score: 54Rare Disease Day 2024 - 2 month(s) ago
BMC is pleased to recognize Rare Disease Day 2024. Rare Disease Day falls this year on February 29, an invitation to leap into awareness about rare conditions impacting over 300 million lives worldwide. The theme for 2024 is ‘Share your Colors’, and encourages increased awareness of the challenges of living with a rare condition. Amid approximately 7,000 known rare diseases – most of which lack approved treatments – it’s common for some rare disease patients to endure symptoms for years before getting an
Source: www.biomedcentral.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 1
The Farm Animal GTEx project introduces a new resource for pigs, in which they map genetic variation to differences in gene expression across thousands of samples.
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 6Ancient migration and the modern genome - Nature Reviews Genetics - 3 month(s) ago
Four papers in Nature describe how ancient European migration patterns have shaped the modern human genome.
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Mashup Score: 5
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable STR loci are known, some of which regulate gene expression and influence complex traits, such as height. Moreover, variants in at least 60 STR loci cause genetic disorders, including Huntington disease and fragile X syndrome….
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 8Amyotrophic lateral sclerosis: translating genetic discoveries into therapies - Nature Reviews Genetics - 3 month(s) ago
In this Review, the authors discuss our growing knowledge of the underlying genetics of amyotrophic lateral sclerosis (ALS; also known as motor neuron disease). They discuss how this information provides insight into causal disease mechanisms and translational opportunities for developing clinical therapeutics.
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
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Mashup Score: 4Genomic surveillance for antimicrobial resistance — a One Health perspective - Nature Reviews Genetics - 3 month(s) ago
Antimicrobial resistance (AMR) is an important public health issue that affects human, animal and environmental sectors worldwide. The authors review the role of genomics in AMR surveillance using a One Health approach, and how genomic approaches can help mitigate the spread of AMR to improve global health.
Source: www.nature.comCategories: General Medicine News, Future of MedicineTweet
Types of single-cell eQTLs - Figure from our #Review 'Single-cell genomics meets human genetics' https://t.co/BHPDqhJsO5 by @AnnaSECuomo, @aparnanathan, @soumya_boston, @dgmacarthur and @drjosephpowell Free to read here: https://t.co/3mc3uRMsEv https://t.co/cyNpJKAd1m