This validation process led to embarking on the development of an expanded ICD-10-AM RDs resource set, to compare its performance to the Stringent Resource Set. In developing an expanded resource set, referred to as the ‘Tasmanian Rare Diseases Resource Set’, a list of all available ICD-10...
This process was automated and applied to each newly merged node; some other complementary resources, including the NORD Rare Diseases database, [29] GeneCards, [30] the National Library of Medicine’s MedlinePlus, [31] PubChem, [32] and the National Cancer Institute’s List of Cancer ...
Rare infectious diseases of poverty (rIDPs) involve more than hundreds of tropical diseases, which dominantly affect people living in impoverished and marginalized regions and fail to be prioritized in the global health agenda. The neglect of rIDPs could impede the progress toward sustainable developme...
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation Generated Pathogenic Impact Evaluator (MAGPIE) that predicts the pathogenicity of multi-type variants. MAG
(uses marker gene list for deconvolution), reference-based (for the deconvolution process, it uses cell type specific gene expression profiles and list of differentially expressed genes across the cell types in the reference), and reference-free (uses reference profiles for cluster annotation after ...
Companies in the technology, banking and telecom industries have dominated a list of most valuable brands in China compiled based on a study by advertising research agency WPP and Millward Brown. Seoul at key point to reset ties with Beijing Moon Jae-in, head of South Korea's Democratic Party...
For a full list of selection criteria and columns from metadata used for curation, see Additional File 5: Table S4. The number of available BC samples for analysis was reduced from 1256 to 381. Cancer driver genes and PAM50 genes We downloaded a list of cancer driver genes for each ...
State of play of rare diseases coding in ICD10 An assessment of the number of rare clinical entities having a specific code in ICD10 can be derived from the effort carried out by Orphanet to cross-reference Orpha codes with ICD10 codes, starting from the Orphanet list of rare clinical entit...
Orphanet Journal of Rare Diseases volume 7, Article number: 54 (2012) Cite this article 38k Accesses 184 Citations 82 Altmetric Metrics details Abstract Definition of the disease AL amyloidosis results from extra-cellular deposition of fibril-forming monoclonal immunoglobulin (Ig) light chains (LC) ...
At present, SM-omics is on Nature’s annual technologies list in 2022. Nevertheless, SM-omics sequencing is still in its infancy. Splicing variants have traditionally been difficult to detect at the RNA level because most techniques are based on single-ended transcription analysis. At the protein...