Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2019.01.012
Abstract: Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at best 50%, leaving the genetic basis for disease unsolved in many individuals. New approaches… read more here.
Keywords: disease; diagnostic tool; rna sequencing; mendelian disease ... See more keywords
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0281-4
Abstract: PurposeOne of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for… read more here.
Keywords: homozygosity; supporting evidence; evidence pathogenicity; mendelian disease ... See more keywords
The phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac619
Abstract: Electronic health record (EHR) data linked to DNA biobanks are a valuable resource for understanding the phenotypic effects of human genetic variation. We previously developed the phenotype risk score (PheRS) as an approach to quantify… read more here.
Keywords: phers package; phenotype; genetic variants; rare genetic ... See more keywords
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aal5209
Abstract: Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25 to 50%. We… read more here.
Keywords: mendelian disease; transcriptome sequencing; rna seq; diagnosis ... See more keywords
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs
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DOI: 10.1371/journal.pgen.1010651
Abstract: Hundreds of genetic variants linked to Mendelian disease have been characterized in dogs to date, and commercial screening is being offered for most of them worldwide. There typically remains a paucity of information regarding the… read more here.
Keywords: relevance; disease; prevalence; disease variants ... See more keywords
Brugada Syndrome: Oligogenic or Mendelian Disease?
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DOI: 10.3390/ijms21051687
Abstract: Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk of sudden cardiac death (SCD) compared to the… read more here.
Keywords: brs; oligogenic mendelian; brugada syndrome; mendelian disease ... See more keywords