Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2021.03.006
Abstract: Summary The complexities of gene expression pose challenges for the clinical interpretation of splicing variants. To better understand splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clinical classifications, and associations with… read more here.
Keywords: splicing variants; clinical interpretation; rna analysis; vuss ... See more keywords
Clinical Interpretation Challenges of Germline-Shared Somatic Variants in Cancer.
Sign Up to like & getrecommendations! Published in 2021 at "Laboratory medicine"
DOI: 10.1093/labmed/lmab020
Abstract: OBJECTIVE To investigate the interpretation differences of germline-shared somatic variants. METHODS A total of 123,302 COSMIC variants associated with hematologic malignant neoplasms were used. The pathogenicity and actionability of shared variants were analyzed based on… read more here.
Keywords: germline shared; interpretation; shared somatic; shared variants ... See more keywords
Administrative data: what surgeons should know about big data
Sign Up to like & getrecommendations! Published in 2017 at "ANZ Journal of Surgery"
DOI: 10.1111/ans.13978
Abstract: Administrative data are commonly encountered by surgeons, yet they are often dismissed as inaccurate or irrelevant. The recent partnership between Royal Australasian College of Surgeons and Medibank Private to study surgical variation in the quest… read more here.
Keywords: big data; surgical outcomes; administrative data; data fields ... See more keywords
Pseudomonas aeruginosa susceptibility, antibiogram and clinical interpretation, and antimicrobial prescribing behaviors for dogs with otitis in the Midwestern United States.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of veterinary pharmacology and therapeutics"
DOI: 10.1111/jvp.13077
Abstract: Pseudomonas aeruginosa (P. aeruginosa) can cause otitis in dogs that is nonresponsive to empirical therapy. This study evaluated P. aeruginosa isolates (N = 216) from canine ear swabs submitted to the Kansas State Veterinary Diagnostic Laboratory from 2018-2020 to… read more here.
Keywords: clinical interpretation; aeruginosa susceptibility; antibiogram clinical; pseudomonas aeruginosa ... See more keywords
CancerVar: An artificial intelligence–empowered platform for clinical interpretation of somatic mutations in cancer
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abj1624
Abstract: Several knowledgebases are manually curated to support clinical interpretations of thousands of hotspot somatic mutations in cancer. However, discrepancies or even conflicting interpretations are observed among these databases. Furthermore, many previously undocumented mutations may have… read more here.
Keywords: clinical interpretation; mutations cancer; interpretation somatic; somatic mutations ... See more keywords
Comparison of the clinical interpretation of high-dimensional molecular data by two molecular tumor boards.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.3564
Abstract: 3564Background: The clinical interpretation of molecular data is a bottleneck of precision oncology. High-dimensional molecular data, such as RNA sequencing (RNA-seq) and whole-exome sequencing (WE... read more here.
Keywords: high dimensional; molecular data; clinical interpretation; oncology ... See more keywords