Enhancers in disease: molecular basis and emerging treatment strategies
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …
expression levels. An increasing number of diseases are linked to impaired enhancer …
Ensembl 2023
FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …
for vertebrates and model organisms for more than twenty years. During that time, our …
Genome interpretation using in silico predictors of variant impact
Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
personalized therapeutic opportunities. Clinical associations and laboratory experiments …
Emerging applications of machine learning in genomic medicine and healthcare
The integration of artificial intelligence technologies has propelled the progress of clinical
and genomic medicine in recent years. The significant increase in computing power has …
and genomic medicine in recent years. The significant increase in computing power has …
Computational approaches for predicting variant impact: An overview from resources, principles to applications
One objective of human genetics is to unveil the variants that contribute to human diseases.
With the rapid development and wide use of next-generation sequencing (NGS), massive …
With the rapid development and wide use of next-generation sequencing (NGS), massive …
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome
VarCards, an online database, combines comprehensive variant-and gene-level annotation
data to streamline genetic counselling for coding variants. Recognising the increasing …
data to streamline genetic counselling for coding variants. Recognising the increasing …
VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants
Determining the pathogenicity and functional impact (ie gain-of-function; GOF or loss-of-
function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human …
function; LOF) of a variant is vital for unraveling the genetic level mechanisms of human …
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants
Accurate variant pathogenicity predictions are important in genetic studies of human
diseases. Inframe insertion and deletion variants (indels) alter protein sequence and length …
diseases. Inframe insertion and deletion variants (indels) alter protein sequence and length …
GoFCards: an integrated database and analytic platform for gain of function variants in humans
W Zhao, Y Tao, J **ong, L Liu, Z Wang… - Nucleic Acids …, 2025 - academic.oup.com
Abstract Gain-of-function (GOF) variants, which introduce new or amplify protein functions,
are essential for understanding disease mechanisms. Despite advances in genomics and …
are essential for understanding disease mechanisms. Despite advances in genomics and …
Tissue-aware interpretation of genetic variants advances the etiology of rare diseases
CM Argov, A Shneyour, J Jubran, E Sabag… - Molecular Systems …, 2024 - embopress.org
Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a
few tissues and organs. However, variant effect prediction tools that aim to identify …
few tissues and organs. However, variant effect prediction tools that aim to identify …