On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23646
Abstract: The variable evidence supporting gene–disease associations contributes to the difficulty of accurate variant reporting in a clinical setting. An evidence‐based scoring system for evaluating the clinical validity of gene–disease associations, proposed by ClinGen, considers experimental… read more here.
Keywords: novo variants; gene disease; evidence;
Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24033
Abstract: Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions… read more here.
Keywords: carrier screening; gene; gene disease; clinical validity ... See more keywords
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24356
Abstract: The use of whole‐genome sequencing (WGS) has accelerated the pace of gene discovery and highlighted the need for open and collaborative data sharing in the search for novel disease genes and variants. GeneMatcher (GM) is… read more here.
Keywords: laboratory; disease; gene disease; disease relationships ... See more keywords
Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24367
Abstract: The ACMG framework for variant interpretation is well‐established and widely used. Although formal guidelines have been published on the establishment of the gene–disease relationships as well, these are not nearly as widely acknowledged or utilized,… read more here.
Keywords: disease relationship; gene disease; relationship evidence; disease relationships ... See more keywords
Comparative analysis of gene and disease selection in genomic newborn screening studies
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12750
Abstract: Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is… read more here.
Keywords: newborn screening; disease; gene disease; gene ... See more keywords
Drug repurposing by integrated literature mining and drug-gene-disease triangulation.
Sign Up to like & getrecommendations! Published in 2017 at "Drug discovery today"
DOI: 10.1016/j.drudis.2016.10.008
Abstract: Drug design is expensive, time-consuming and becoming increasingly complicated. Computational approaches for inferring potentially new purposes of existing drugs, referred to as drug repositioning, play an increasingly important part in current pharmaceutical studies. Here, we… read more here.
Keywords: literature mining; disease triangulation; drug gene; drug ... See more keywords
High-quality gene/disease embedding in a multi-relational heterogeneous graph after a joint matrix/tensor decomposition
Sign Up to like & getrecommendations! Published in 2022 at "Journal of biomedical informatics"
DOI: 10.1016/j.jbi.2021.103973
Abstract: MOTIVATION Node embedding of biological entity network has been widely investigated for the downstream application scenarios. To embed full semantics of gene and disease, a multi-relational heterogeneous graph is considered in a scenario where uni-relation… read more here.
Keywords: graph; multi relational; gene disease; gene ... See more keywords
Ensemble learning methods and heterogeneous graph network fusion: building drug-gene-disease triple association prediction models
Sign Up to like & getrecommendations! Published in 2025 at "Briefings in Bioinformatics"
DOI: 10.1093/bib/bbaf369
Abstract: Abstract The potential association data between drugs, genes, and diseases is sparse and complex. Existing models find it difficult to effectively handle the problem of heterogeneous relationships and multi-source data fusion simultaneously, resulting in limited… read more here.
Keywords: fusion; association prediction; drug gene; gene disease ... See more keywords
100 Years of evolving gene-disease complexities and scientific debutants
Sign Up to like & getrecommendations! Published in 2020 at "Briefings in bioinformatics"
DOI: 10.1093/bib/bbz038
Abstract: It's been over 100 years since the word `gene' is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it's about, e.g. triple code… read more here.
Keywords: gene disease; evolving gene; gene; 100 years ... See more keywords
A global network of biomedical relationships derived from text
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DOI: 10.1093/bioinformatics/bty114
Abstract: Motivation: The biomedical community's collective understanding of how chemicals, genes and phenotypes interact is distributed across the text of over 24 million research articles. These interactions offer insights into the mechanisms behind higher order biochemical… read more here.
Keywords: network; disease; chemical gene; gene disease ... See more keywords
A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development.
Sign Up to like & getrecommendations! Published in 2022 at "Human reproduction update"
DOI: 10.1093/humupd/dmac044
Abstract: BACKGROUND As in other domains of medicine, high-throughput sequencing methods have led to the identification of an ever-increasing number of gene variants in the fields of both male and female infertility. The increasing number of… read more here.
Keywords: development; gene disease; evidence; female infertility ... See more keywords