Genetics in Medicine Open最新文献

{"title":"P028: Population-specific structural variation linked to metabolic diseases in people of Pacific ancestry","authors":"Connor Littlefield , Jose Lazaro-Guevara , Devorah Stucki , Michael Lansford , Melissa Pezzolesi , Emma Taylor , Jacob Taloa , Kime Lao , Justina Tavana , William Holland , Kalani Raphael , Marcus Pezzolesi","doi":"10.1016/j.gimo.2025.102872","DOIUrl":"10.1016/j.gimo.2025.102872","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102872"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636868","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":"2: Artificial intelligence-assisted conventional chromosome analysis to explore clonal dynamics in chronic lymphocytic leukemia","authors":"Matthew Avenarius, Samantha Teierle, Lucia Culley, Joie Olayiwola, Cecelia Miller","doi":"10.1016/j.gimo.2024.101919","DOIUrl":"10.1016/j.gimo.2024.101919","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101919"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562113","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":"16: Cross-comparison of optical genome mapping and chromosomal microarray data using VIA software","authors":"James Yu, Jen Hauenstein, Gunter Scharer, Ulrich Broeckel, Alex Hastie, Alka Chaubey","doi":"10.1016/j.gimo.2024.101933","DOIUrl":"10.1016/j.gimo.2024.101933","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101933"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562187","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":"Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies","authors":"He Fang ,&nbsp;Stephen M. Eacker ,&nbsp;Yu Wu ,&nbsp;Whitney Neufeld-Kaiser ,&nbsp;Mercy Laurino ,&nbsp;Siobán Keel ,&nbsp;Marshall S. Horwitz ,&nbsp;Yajuan J. Liu","doi":"10.1016/j.gimo.2025.103423","DOIUrl":"10.1016/j.gimo.2025.103423","url":null,"abstract":"<div><h3>Purpose</h3><div>Complex chromosomal rearrangements (CCRs) are rare structural variants involving 3 or more chromosomal breakpoints. Most de novo-reported CCRs pose challenges for diagnosis and management. They often require karyotyping, fluorescence in situ hybridization, and chromosomal microarray analysis (CMA) for clinical diagnosis because of the limitations of each method. Here, we report an inherited, exceptionally complex CCR involving 4 chromosomes and 13 breakpoints in a family with multisystem anomalies.</div></div><div><h3>Methods</h3><div>We evaluated the CCRs using karyotyping, fluorescence in situ hybridization, CMA, and 2 emerging genomic technologies: high-throughput chromosome conformation capture sequencing aka genomic proximity mapping and optical genome mapping. We also performed functional studies using transcriptome and methylome analyses.</div></div><div><h3>Results</h3><div>The proband, who had intellectual disability and immune deficiency, shared CCRs with her unaffected mother involving chromosomes 1, 7, and 11 by karyotyping. However, CMA revealed a duplication and 3 deletions in the proband, in contrast to her mother’s balanced genome. High-throughput chromosome conformation capture sequencing aka genomic proximity mapping and optical genome mapping detected the CCRs and copy-number alterations but also uncovered additional breakpoints at high resolution, including an insertion in 4p and 2 cryptic rearrangements at 7p. Transcriptome and methylome analyses identified likely biological pathways associated with the proband’s phenotypes.</div></div><div><h3>Conclusion</h3><div>Combining cytogenetic and genomic methods provided comprehensive characterization and defined the breakpoints at high resolution in both proband and mother. This underscores the value of novel cytogenetic and genomic techniques in deciphering complex genome rearrangements and the significance of integrative genomic analysis and functional characterization in understanding clinical phenotypes.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103423"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143924666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"35: A rare mechanism of Russell-Silver syndrome acquired from a maternally derived unbalanced translocation, t(X;11)","authors":"Rebecca B. Smith ,&nbsp;Ashwini Yenamandra ,&nbsp;Meng-Chang Hsiao ,&nbsp;Yingda Wang ,&nbsp;Sophia D. Stewart ,&nbsp;Rory Tinker ,&nbsp;Neena Agrawal","doi":"10.1016/j.gimo.2024.101952","DOIUrl":"10.1016/j.gimo.2024.101952","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101952"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561846","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":"30: FUS rearrangements/fusions by FISH and RNA-based gene fusion assays in sarcomas","authors":"Candice Ament","doi":"10.1016/j.gimo.2024.101947","DOIUrl":"10.1016/j.gimo.2024.101947","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101947"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562087","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":"3: Comparing and contrasting karyotype scoring guidelines for evaluating complex karyotype in chronic lymphocytic leukemia","authors":"Cecelia R. Miller ,&nbsp;Ying Huang ,&nbsp;Adam S. Kittai ,&nbsp;Seema A. Bhat ,&nbsp;Kerry A. Rogers ,&nbsp;Michael R. Grever ,&nbsp;Jennifer A. Woyach ,&nbsp;Matthew R. Avenarius","doi":"10.1016/j.gimo.2024.101920","DOIUrl":"10.1016/j.gimo.2024.101920","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101920"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143562209","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":"Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization","authors":"Calvin Le ,&nbsp;Kevin Tatunay ,&nbsp;Wayne Liu ,&nbsp;Haibo Lu ,&nbsp;Nicole-Ann Rodis ,&nbsp;Thomas Nam ,&nbsp;Mercy Y. Laurino ,&nbsp;Marianne E. Dubard-Gault","doi":"10.1016/j.gimo.2024.101913","DOIUrl":"10.1016/j.gimo.2024.101913","url":null,"abstract":"<div><h3>Purpose</h3><div>Rapid advancements in information technology have greatly influenced clinicians’ engagement with patient data for health maintenance. The electronic health record often contains multiple ways to record risk factors and to identify patients at an elevated genetic risk for cancer. However, these variables exist in multiple forms and disparate locations in each commercial electronic health record solution resulting in significant variations in how family history or genetic data is codified. Furthermore, there is pressure to migrate from one commercial solution to another at times, prompting the need for a process ensuring data integrity during such a transition.</div></div><div><h3>Methods</h3><div>Between July and December 2023, the genetics team migrated a family history database from one commercial software solution to another. After the data migration of 13,000 patient records, we reviewed 500 randomly selected charts in both support tools to measure the rate of concordance of information transferred.</div></div><div><h3>Results</h3><div>A total of 461 patient charts were reviewed. Of these, 425 (92.2%) were noted to be concordant. Of the 36 charts that were discordant, 9 had incorrect genetic testing results entered, 19 had missing information, 5 charts contained data recorded on paper before 2017 (legacy data), and 3 had additional information transferred.</div></div><div><h3>Conclusion</h3><div>There was high data integrity after migration from one commercial software solution to another. Although these results can ease clinicians’ concerns after such support tool transitions, our effort also highlights areas for improvement in how family and patient genetic data are recorded and utilized for clinical care and research within an institution.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101913"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143376884","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":"P013: Advances in multi-omics diagnostics studies of mitochondrial diseases in Japan","authors":"Yasushi Okazaki ,&nbsp;Kei Murayama ,&nbsp;Atsuko Okazaki","doi":"10.1016/j.gimo.2025.102857","DOIUrl":"10.1016/j.gimo.2025.102857","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102857"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636270","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":"O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency","authors":"Charles Venditti ,&nbsp;Jennifer Sloan ,&nbsp;Wadih Zein ,&nbsp;Audrey Thurm ,&nbsp;Camryn Hall ,&nbsp;Carol Van Ryzin ,&nbsp;Susan Ferry ,&nbsp;Abigael Gebremariam ,&nbsp;Jennifer Myles ,&nbsp;Laryssa Huryn ,&nbsp;Brian Brooks ,&nbsp;Irini Manoli","doi":"10.1016/j.gimo.2025.101966","DOIUrl":"10.1016/j.gimo.2025.101966","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101966"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636381","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}