FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4281882209> ?p ?o ?g. }

• W4281882209 abstract "Abstract The widely used ACMG-AMP variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign and benign) were specifically developed for variants in Mendelian disease genes, classifying variants discretely with respect to a simple causal versus benign dichotomy. A general variant classification framework taking into account the continuum of clinical phenotypes, the continuum of the variants’ genetic effects and the different pathological roles of the genes implicated, is however lacking. Herein, we used chronic pancreatitis (CP), which clinically manifests as hereditary, familial, idiopathic or alcoholic forms, as a disease model. Based upon cross-gene and cross-variant comparisons, we firstly assigned the four most studied CP genes ( PRSS1, CFTR, SPINK1 and CTRC ) to two distinct categories in terms of causality: CP-causing ( PRSS1 and SPINK1 ) and CP-predisposing ( CFTR and CTRC ). We then employed two new classificatory categories, “predisposing” and “likely predisposing”, to replace ACMG-AMP’s “pathogenic” and “likely pathogenic” categories in CP-predisposing genes, thereby classifying all pathologically relevant variants in these genes as “predisposing”. In the case of CP-causing genes, the two new classificatory categories served to expand the five ACMG-AMP categories whilst two thresholds (allele frequency and functional) were introduced to discriminate pathogenic from predisposing variants. Our proposed five-category (predisposing, likely predisposing, uncertain significance, likely benign and benign) and seven-category (pathogenic, likely pathogenic, predisposing, likely predisposing, uncertain significance, likely benign and benign) frameworks (with respect to disease-predisposing and disease-causing genes, respectively) retain the backbone of the five ACMG-AMP categories while rendering them readily applicable to variant classification in other disease contexts." @default.
• W4281882209 created "2022-06-13" @default.
• W4281882209 creator A5001125176 @default.
• W4281882209 creator A5003310948 @default.
• W4281882209 creator A5004987194 @default.
• W4281882209 creator A5011453874 @default.
• W4281882209 creator A5024873764 @default.
• W4281882209 creator A5035616324 @default.
• W4281882209 creator A5041954083 @default.
• W4281882209 creator A5042443600 @default.
• W4281882209 creator A5066521398 @default.
• W4281882209 creator A5084080403 @default.
• W4281882209 creator A5087474823 @default.
• W4281882209 date "2022-06-06" @default.
• W4281882209 modified "2023-10-18" @default.
• W4281882209 title "A proposed general variant classification framework using chronic pancreatitis as a disease model" @default.
• W4281882209 cites W1563800735 @default.
• W4281882209 cites W156499690 @default.
• W4281882209 cites W1915724400 @default.
• W4281882209 cites W1966538429 @default.
• W4281882209 cites W1972147587 @default.
• W4281882209 cites W1972579181 @default.
• W4281882209 cites W1976560667 @default.
• W4281882209 cites W1980991473 @default.
• W4281882209 cites W1984585928 @default.
• W4281882209 cites W1989363593 @default.
• W4281882209 cites W1994986431 @default.
• W4281882209 cites W1997718215 @default.
• W4281882209 cites W2000611395 @default.
• W4281882209 cites W2029904363 @default.
• W4281882209 cites W2034421470 @default.
• W4281882209 cites W2039504123 @default.
• W4281882209 cites W2051978340 @default.
• W4281882209 cites W2061596350 @default.
• W4281882209 cites W2067080189 @default.
• W4281882209 cites W2068004082 @default.
• W4281882209 cites W2083214486 @default.
• W4281882209 cites W2085404502 @default.
• W4281882209 cites W2086794332 @default.
• W4281882209 cites W2108734085 @default.
• W4281882209 cites W2110372927 @default.
• W4281882209 cites W2118070161 @default.
• W4281882209 cites W2123641402 @default.
• W4281882209 cites W2125385355 @default.
• W4281882209 cites W2138361320 @default.
• W4281882209 cites W2138362876 @default.
• W4281882209 cites W2147021600 @default.
• W4281882209 cites W2148793920 @default.
• W4281882209 cites W2151505671 @default.
• W4281882209 cites W2154043031 @default.
• W4281882209 cites W2155759872 @default.
• W4281882209 cites W2252255302 @default.
• W4281882209 cites W2253118935 @default.
• W4281882209 cites W2294880188 @default.
• W4281882209 cites W2313829157 @default.
• W4281882209 cites W2315062805 @default.
• W4281882209 cites W2321869950 @default.
• W4281882209 cites W2330410882 @default.
• W4281882209 cites W2513622098 @default.
• W4281882209 cites W2563895368 @default.
• W4281882209 cites W2587204086 @default.
• W4281882209 cites W2608870822 @default.
• W4281882209 cites W2612091911 @default.
• W4281882209 cites W2617895952 @default.
• W4281882209 cites W2618100137 @default.
• W4281882209 cites W2727886206 @default.
• W4281882209 cites W2760502458 @default.
• W4281882209 cites W2782210658 @default.
• W4281882209 cites W287635977 @default.
• W4281882209 cites W2892127870 @default.
• W4281882209 cites W2901576773 @default.
• W4281882209 cites W2910053234 @default.
• W4281882209 cites W2968284507 @default.
• W4281882209 cites W2974857756 @default.
• W4281882209 cites W3018268201 @default.
• W4281882209 cites W3029661147 @default.
• W4281882209 cites W3083420297 @default.
• W4281882209 cites W3105278296 @default.
• W4281882209 cites W3108478617 @default.
• W4281882209 cites W3124715823 @default.
• W4281882209 cites W3126907505 @default.
• W4281882209 cites W3137718367 @default.
• W4281882209 cites W3157259616 @default.
• W4281882209 cites W3198039376 @default.
• W4281882209 cites W3201453557 @default.
• W4281882209 cites W3210059080 @default.
• W4281882209 cites W4200384010 @default.
• W4281882209 cites W4210493742 @default.
• W4281882209 cites W4211233079 @default.
• W4281882209 doi "https://doi.org/10.1101/2022.06.03.22275950" @default.
• W4281882209 hasPublicationYear "2022" @default.
• W4281882209 type Work @default.
• W4281882209 citedByCount "1" @default.
• W4281882209 countsByYear W42818822092022 @default.
• W4281882209 crossrefType "posted-content" @default.
• W4281882209 hasAuthorship W4281882209A5001125176 @default.
• W4281882209 hasAuthorship W4281882209A5003310948 @default.
• W4281882209 hasAuthorship W4281882209A5004987194 @default.
• W4281882209 hasAuthorship W4281882209A5011453874 @default.
• W4281882209 hasAuthorship W4281882209A5024873764 @default.

• next