Artificial intelligence in molecular medicine
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From variant to function in human disease genetics
T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …
biological mechanisms by which genetic variants influence phenotypes, including disease …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …
across individuals is essential for identifying the cellular mechanisms that underlie human …
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Background Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
synthesis of human proteins. Genetic variants impacting splicing underlie a substantial …
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Key challenges for human genetics, precision medicine and evolutionary biology include
deciphering the regulatory code of gene expression and understanding the transcriptional …
deciphering the regulatory code of gene expression and understanding the transcriptional …
[HTML][HTML] A quantitative proteome map of the human body
Determining protein levels in each tissue and how they compare with RNA levels is
important for understanding human biology and disease as well as regulatory processes …
important for understanding human biology and disease as well as regulatory processes …
Where are the disease-associated eQTLs?
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …
have detectable effects on gene expression. One explanation could be that we have not …
Genetic diagnosis of Mendelian disorders via RNA sequencing
Across a variety of Mendelian disorders,∼ 50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions …