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Mashup Score: 3Homozygosity mapping: a game-changer for autosomal recessive diseases - Nature Reviews Genetics - 2 year(s) ago
In this Journal Club article, Fowzan Alkuraya describes how a paper outlining the mathematical foundations of homozygosity mapping provided a route to disease gene identification that still benefits his patients in clinical practice today.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 16
The authors review the field of mammalian mitochondrial genome engineering, culminating in the recent development of mitochondrially targeted programmable nucleases and base editors. They describe research that led to the development of animal models of mitochondrial disease, as well as the potential for translating these approaches to the clinic.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 2
A study in Science reports the genetic determinants of differences in immune responses to viral infection between individuals of European and African ancestries.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 1
A study in Science reports the genetic determinants of differences in immune responses to viral infection between individuals of European and African ancestries.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 11Navigating the pitfalls of applying machine learning in genomics - Nature Reviews Genetics - 2 year(s) ago
Machine learning is widely applied in various fields of genomics and systems biology. In this Review, the authors describe how responsible application of machine learning requires an understanding of several common pitfalls that users should be aware of (and mitigate) to avoid unreliable results.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 2From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo - Nature Reviews Genetics - 2 year(s) ago
Loci that encode long non-coding RNAs (lncRNAs) can be complex and function through multiple modalities. The authors provide a framework for elucidating the physiological roles of lncRNAs using genetically engineered mouse models, including whole-gene deletion, transcription termination, reporters and transgene rescue strategies.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 0Navigating the pitfalls of applying machine learning in genomics - Nature Reviews Genetics - 2 year(s) ago
Machine learning is widely applied in various fields of genomics and systems biology. In this Review, the authors describe how responsible application of machine learning requires an understanding of several common pitfalls that users should be aware of (and mitigate) to avoid unreliable results.
Source: Nature Reviews GeneticsCategories: Cardiologists, Latest HeadlinesTweet
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Mashup Score: 2Navigating the pitfalls of applying machine learning in genomics - Nature Reviews Genetics - 2 year(s) ago
Machine learning is widely applied in various fields of genomics and systems biology. In this Review, the authors describe how responsible application of machine learning requires an understanding of several common pitfalls that users should be aware of (and mitigate) to avoid unreliable results.
Source: Nature Reviews GeneticsCategories: Future of Medicine, Latest HeadlinesTweet
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Mashup Score: 17Navigating the pitfalls of applying machine learning in genomics - Nature Reviews Genetics - 2 year(s) ago
Machine learning is widely applied in various fields of genomics and systems biology. In this Review, the authors describe how responsible application of machine learning requires an understanding of several common pitfalls that users should be aware of (and mitigate) to avoid unreliable results.
Source: Nature Reviews GeneticsCategories: Latest Headlines, Oncologists1Tweet
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Mashup Score: 4From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo - Nature Reviews Genetics - 2 year(s) ago
Loci that encode long non-coding RNAs (lncRNAs) can be complex and function through multiple modalities. The authors provide a framework for elucidating the physiological roles of lncRNAs using genetically engineered mouse models, including whole-gene deletion, transcription termination, reporters and transgene rescue strategies.
Source: Nature Reviews GeneticsCategories: Latest Headlines, Oncologists1Tweet
RT @NatureRevGenet: Homozygosity mapping: a game-changer for autosomal recessive diseases https://t.co/MeqZ0YPFbO #JournalClub by @alkuraya…