Genetics in Medicine Open最新文献

{"title":"P005: Validation of a multiplex LC-MS/MS assay for newborn screening for MPS II, IVA, VI, and VII in dried blood spots*","authors":"Samantha Blake , Katerina Kucera , Julia Apoian , Kirstyn Tober , Brooke Migliore , Evan Thorp","doi":"10.1016/j.gimo.2025.102849","DOIUrl":"10.1016/j.gimo.2025.102849","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102849"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P046: Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States","authors":"Karly Louie , Bharath Vedantham , Komal Wadhwa , Rohit Marwah , Shahid Khan , Shaun Jones","doi":"10.1016/j.gimo.2025.102890","DOIUrl":"10.1016/j.gimo.2025.102890","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102890"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P061: Withdrawn","authors":"","doi":"10.1016/j.gimo.2025.102905","DOIUrl":"10.1016/j.gimo.2025.102905","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102905"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency","authors":"Janhawi Kelkar , Yu Leng Phua , Chunli Yu , Colleen Donnelly , Mary LoPiccolo","doi":"10.1016/j.gimo.2025.102909","DOIUrl":"10.1016/j.gimo.2025.102909","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102909"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*","authors":"Shruthi Mohan , Irene DeBiase , Tatiana Yuzyuk , Alexa Dickson , Tiziano Pramparo , Stephanie Francis , Pepper St. Clair , Rachel Logan , Randy Cockerell , Raquel Fernandez , Ashley Ratzsch , Emily Kyle , Meredith Weaver , Sharon Suchy , Ann Moser , Rong Mao , Nancy Braverman","doi":"10.1016/j.gimo.2025.102848","DOIUrl":"10.1016/j.gimo.2025.102848","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102848"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P069: Progressive neurological symptoms in a 36-year-old female: Clinical challenge","authors":"Farah Salman , Caterina Abdala Villa , Pongtawat Lertwilaiwittaya , Anna Hurst","doi":"10.1016/j.gimo.2025.102913","DOIUrl":"10.1016/j.gimo.2025.102913","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102913"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P053: Genotype phenotype correlations Inform therapeutic approach in serine palmitoyltransferase (SPT)-related disorders","authors":"Robert Thompson , Yi Gong , Kenneth Gable , Ashley Glover , Teresa Dunn , Florian Eichler","doi":"10.1016/j.gimo.2025.102897","DOIUrl":"10.1016/j.gimo.2025.102897","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102897"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P016: Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) mouse model","authors":"Gabriela Elizondo , Arianna Scalco , Garen Gaston , Beth Habecker , Melanie Gillingham","doi":"10.1016/j.gimo.2025.102860","DOIUrl":"10.1016/j.gimo.2025.102860","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102860"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P057: Reducing the false positive for guanidinoacetate methyltransferase enzyme deficiency in newborns by the addition of a second tier UPLC-MS/MS test","authors":"Jun Qiang Zhou , Kuldeep Dhillon , Jeffrey Aduviso , Long Nguyen , Alexander Cruz , Daniel Simon , Jamie Matteson , Sarah Carter , Tracey Bishop , Rajesh Sharma","doi":"10.1016/j.gimo.2025.102901","DOIUrl":"10.1016/j.gimo.2025.102901","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102901"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system","authors":"Anna Benet-Pagès ,&nbsp;Andreas Laner ,&nbsp;Luis R. Nassar ,&nbsp;Tobias Wohlfrom ,&nbsp;Verena Steinke-Lange ,&nbsp;Maximilian Haeussler ,&nbsp;Elke Holinski-Feder","doi":"10.1016/j.gimo.2024.101961","DOIUrl":"10.1016/j.gimo.2024.101961","url":null,"abstract":"<div><h3>Purpose</h3><div>Variants of uncertain significance (VUS) are considered one of the most significant impediments to the translation of genetic test results into precise clinical recommendations. The 2015 American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) classification guidelines established a general framework for the assessment and classification of genetic variants; yet, gene-specific specifications are needed to enable better variant classification to reduce the number of VUS. The process of gene-specific adaptations of the ACMG/AMP codes is led and accompanied by ClinGen and implemented by Variant Curation Expert Panels (VCEP). The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) VCEP recently published its specifications for the <em>BRCA1</em> (HGNC:1100) and <em>BRCA2</em> (HGNC:1101) genes. We investigated the differences in reclassification between the ENIGMA specifications and the standard ACMG/AMP classification system in a clinical setting.</div></div><div><h3>Methods</h3><div>We reclassified 121 VUS identified in these genes with the latest annotation data using the standard ACMG/AMP classification system and recommendations from the Sequence Variant Interpretation and the ENIGMA specifications. To simplify the reevaluation process, we have created a University of California Santa Cruz Genome Browser track hub that displays the exact data points required for variant classification using the ENIGMA VCEP specifications at the exon and variant level (<span><span>https://genome.ucsc.edu/s/abenet/BRCA.ENIGMA.hg19</span><svg><path></path></svg></span>).</div></div><div><h3>Results</h3><div>By comparing the codes used and their different weighting in the 2 approaches, we were able to demonstrate the superiority of the application of ENIGMA VCEP specifications, which resulted in a dramatic reduction of VUS (83.5% ENIGMA VCEP vs 20% ACMG/AMP + Sequence Variant Interpretation).</div></div><div><h3>Conclusion</h3><div>For the diagnostic analysis of the <em>BRCA1</em> and <em>BRCA2</em> genes, the use of the ENIGMA VCEP specifications gives the best possible result in the clinical translation of genetic variants. The University of California Santa Cruz Genome Browser <em>BRCA1</em>/<em>BRCA2</em> ENIGMA track set significantly simplified the interpretation process.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101961"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}