FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4297990908> ?p ?o ?g. }

• W4297990908 abstract "Abstract Objective In 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with ALS. Through this endeavor, we will provide standardized guidance to laboratories on which genes should be included in clinical genetic testing panels for ALS. In this manuscript, we aimed to assess the heterogeneity in the current global landscape of clinical genetic testing for ALS. Methods We reviewed the National Institutes of Health (NIH) Genetic Testing Registry (GTR) and members of the ALS GCEP to source frequently used testing panels and compare the genes included on the tests. Results 14 clinical panels specific to ALS from 14 laboratories covered 4 to 54 genes. All panels report on ANG, SOD1, TARDBP , and VAPB ; 50% included or offered the option of including C9orf72 hexanucleotide repeat expansion (HRE) analysis. Of the 91 genes included in at least one of the panels, 40 (44.0%) were included on only a single panel. We could not find a direct link to ALS in the literature for 14 (15.4%) included genes. Conclusions The variability across the surveyed clinical genetic panels is concerning due to the possibility of reduced diagnostic yields in clinical practice and risk of a missed diagnoses for patients. Our results highlight the necessity for consensus regarding the appropriateness of gene inclusions in clinical genetic ALS tests to improve its application for patients living with ALS and their families." @default.
• W4297990908 created "2022-10-01" @default.
• W4297990908 creator A5000510247 @default.
• W4297990908 creator A5001066503 @default.
• W4297990908 creator A5001477192 @default.
• W4297990908 creator A5002628021 @default.
• W4297990908 creator A5010735640 @default.
• W4297990908 creator A5011087154 @default.
• W4297990908 creator A5011903148 @default.
• W4297990908 creator A5014019243 @default.
• W4297990908 creator A5016703081 @default.
• W4297990908 creator A5017104403 @default.
• W4297990908 creator A5017364742 @default.
• W4297990908 creator A5019488219 @default.
• W4297990908 creator A5021002573 @default.
• W4297990908 creator A5023673413 @default.
• W4297990908 creator A5025625415 @default.
• W4297990908 creator A5026161926 @default.
• W4297990908 creator A5026567185 @default.
• W4297990908 creator A5027626465 @default.
• W4297990908 creator A5031062952 @default.
• W4297990908 creator A5031506785 @default.
• W4297990908 creator A5035072440 @default.
• W4297990908 creator A5035345962 @default.
• W4297990908 creator A5035602637 @default.
• W4297990908 creator A5044874574 @default.
• W4297990908 creator A5045004265 @default.
• W4297990908 creator A5050302490 @default.
• W4297990908 creator A5059145426 @default.
• W4297990908 creator A5060389853 @default.
• W4297990908 creator A5069816083 @default.
• W4297990908 creator A5072349881 @default.
• W4297990908 creator A5074077702 @default.
• W4297990908 creator A5075965695 @default.
• W4297990908 creator A5076755708 @default.
• W4297990908 creator A5077126324 @default.
• W4297990908 creator A5083778124 @default.
• W4297990908 creator A5087627794 @default.
• W4297990908 creator A5091026805 @default.
• W4297990908 date "2022-09-29" @default.
• W4297990908 modified "2023-09-27" @default.
• W4297990908 title "Clinical testing panels for ALS: global distribution, consistency, and challenges" @default.
• W4297990908 cites W2048612925 @default.
• W4297990908 cites W2061194981 @default.
• W4297990908 cites W2080802641 @default.
• W4297990908 cites W2138207816 @default.
• W4297990908 cites W2154866190 @default.
• W4297990908 cites W2166344667 @default.
• W4297990908 cites W2487331275 @default.
• W4297990908 cites W2498993352 @default.
• W4297990908 cites W2515492896 @default.
• W4297990908 cites W2584645003 @default.
• W4297990908 cites W2611848529 @default.
• W4297990908 cites W2892151188 @default.
• W4297990908 cites W2907786855 @default.
• W4297990908 cites W2937323759 @default.
• W4297990908 cites W2990435446 @default.
• W4297990908 cites W2991360048 @default.
• W4297990908 cites W3093525900 @default.
• W4297990908 cites W3114107609 @default.
• W4297990908 cites W3165910986 @default.
• W4297990908 cites W3186808236 @default.
• W4297990908 cites W3199611572 @default.
• W4297990908 cites W3203631914 @default.
• W4297990908 cites W4207038459 @default.
• W4297990908 cites W4280615303 @default.
• W4297990908 doi "https://doi.org/10.1101/2022.09.27.22280431" @default.
• W4297990908 hasPublicationYear "2022" @default.
• W4297990908 type Work @default.
• W4297990908 citedByCount "1" @default.
• W4297990908 countsByYear W42979909082022 @default.
• W4297990908 crossrefType "posted-content" @default.
• W4297990908 hasAuthorship W4297990908A5000510247 @default.
• W4297990908 hasAuthorship W4297990908A5001066503 @default.
• W4297990908 hasAuthorship W4297990908A5001477192 @default.
• W4297990908 hasAuthorship W4297990908A5002628021 @default.
• W4297990908 hasAuthorship W4297990908A5010735640 @default.
• W4297990908 hasAuthorship W4297990908A5011087154 @default.
• W4297990908 hasAuthorship W4297990908A5011903148 @default.
• W4297990908 hasAuthorship W4297990908A5014019243 @default.
• W4297990908 hasAuthorship W4297990908A5016703081 @default.
• W4297990908 hasAuthorship W4297990908A5017104403 @default.
• W4297990908 hasAuthorship W4297990908A5017364742 @default.
• W4297990908 hasAuthorship W4297990908A5019488219 @default.
• W4297990908 hasAuthorship W4297990908A5021002573 @default.
• W4297990908 hasAuthorship W4297990908A5023673413 @default.
• W4297990908 hasAuthorship W4297990908A5025625415 @default.
• W4297990908 hasAuthorship W4297990908A5026161926 @default.
• W4297990908 hasAuthorship W4297990908A5026567185 @default.
• W4297990908 hasAuthorship W4297990908A5027626465 @default.
• W4297990908 hasAuthorship W4297990908A5031062952 @default.
• W4297990908 hasAuthorship W4297990908A5031506785 @default.
• W4297990908 hasAuthorship W4297990908A5035072440 @default.
• W4297990908 hasAuthorship W4297990908A5035345962 @default.
• W4297990908 hasAuthorship W4297990908A5035602637 @default.
• W4297990908 hasAuthorship W4297990908A5044874574 @default.
• W4297990908 hasAuthorship W4297990908A5045004265 @default.
• W4297990908 hasAuthorship W4297990908A5050302490 @default.
• W4297990908 hasAuthorship W4297990908A5059145426 @default.
• W4297990908 hasAuthorship W4297990908A5060389853 @default.

• next