Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.06.021
Abstract: Human Phenotype Ontology (HPO)-based analysis has become standard for genomic diagnostics of rare diseases. Current algorithms use a variety of semantic and statistical approaches to prioritize the typically long lists of genes with candidate pathogenic… read more here.
Keywords: genomics likelihood; interpretable clinical; likelihood ratio; genomic diagnostics ... See more keywords
Biomedical informatics and machine learning for clinical genomics.
Sign Up to like & getrecommendations! Published in 2018 at "Human molecular genetics"
DOI: 10.1093/hmg/ddy088
Abstract: While tens of thousands of pathogenic variants are used to inform the many clinical applications of genomics, there remains limited information on quantitative disease risk for the majority of variants used in clinical practice. At… read more here.
Keywords: machine; machine learning; biomedical informatics; clinical genomics ... See more keywords
Clinical genomics, big data, and electronic medical records: reconciling patient rights with research when privacy and science collide
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Law and the Biosciences"
DOI: 10.1093/jlb/lsw061
Abstract: Abstract Widespread use of medical records for research, without consent, attracts little scrutiny compared to biospecimen research, where concerns about genomic privacy prompted recent federal proposals to mandate consent. This paper explores an important consequence… read more here.
Keywords: research; genomic data; clinical genomics; clinical genomic ... See more keywords
To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Ethics"
DOI: 10.1186/s12910-021-00670-y
Abstract: Background Clinical genomic professionals are increasingly facing decisions about returning incidental findings (IFs) from genetic research. Although previous studies have shown that research participants are interested in receiving IFs, yet there has been an argument… read more here.
Keywords: research; genomics professionals; incidental findings; returning incidental ... See more keywords
Clinical genomics and precision medicine
Sign Up to like & getrecommendations! Published in 2022 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2022-0150
Abstract: Abstract Precision Medicine emerges from the genomic paradigm of health and disease. For precise molecular diagnoses of genetic diseases, we must analyze the Whole Exome (WES) or the Whole Genome (WGS). By not needing exon… read more here.
Keywords: clinical genomics; precision medicine; healthy individuals; wgs ... See more keywords
Editorial: Translating clinical genomics and health informatics into precision oncology
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1029212
Abstract: Some cancers are driven by targetable genomic alterations that dysregulate key pathways influencing cell growth and survival. These tumors lend themselves to significant, although inevitably transient, clinical responses upon targeted drug treatment. Accordingly, omic-based theranostics… read more here.
Keywords: clinical genomics; oncology; translating clinical; editorial translating ... See more keywords
Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.929736
Abstract: Precision medicine has greatly aided in improving health outcomes using earlier diagnosis and better prognosis for chronic diseases. It makes use of clinical data associated with the patient as well as their multi-omics/genomic data to… read more here.
Keywords: clinical genomics; intelligence healthcare; precision medicine; artificial intelligence ... See more keywords
Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.949422
Abstract: Purpose: Despite recent attention to increasing diversity in clinical genomics research, researchers still struggle to recruit participants from varied sociodemographic backgrounds. We examined the experiences of parents from diverse backgrounds with enrolling their children in… read more here.
Keywords: clinical genomics; genomics research; rare disease; research rare ... See more keywords
Investigating the Adoption of Clinical Genomics in Australia. An Implementation Science Case Study
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12020317
Abstract: Despite the overwhelming interest in clinical genomics, uptake has been slow. Implementation science offers a systematic approach to reveal pathways to adoption and a theory informed approach to addressing barriers presented. Using case study methodology,… read more here.
Keywords: clinical genomics; implementation science; case study;