Pub Date : 2023-04-03DOI: 10.1515/medgen-2023-2013
{"title":"Jahresberichte 2022 aus den GfH-Kommissionen und GfH-Arbeitskreisen","authors":"","doi":"10.1515/medgen-2023-2013","DOIUrl":"https://doi.org/10.1515/medgen-2023-2013","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135524158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-31DOI: 10.1515/medgen-2022-2161
Martin Kircher, Kerstin U Ludwig
Identification of genetic variation in individual genomes is now a routine procedure in human genetic research and diagnostics. For many variants, however, insufficient evidence is available to establish a pathogenic effect, particularly for variants in non-coding regions. Furthermore, the sheer number of candidate variants renders testing in individual assays virtually impossible. While scalable approaches are being developed, the selection of methods and resources, and the application of a given framework to a particular disease or trait remain major challenges. This limits the translation of results from both genome-wide association studies and genome sequencing. Here, we discuss computational and experimental approaches available for functional annotation of non-coding variation.
{"title":"Systematic assays and resources for the functional annotation of non-coding variants.","authors":"Martin Kircher, Kerstin U Ludwig","doi":"10.1515/medgen-2022-2161","DOIUrl":"https://doi.org/10.1515/medgen-2022-2161","url":null,"abstract":"<p><p>Identification of genetic variation in individual genomes is now a routine procedure in human genetic research and diagnostics. For many variants, however, insufficient evidence is available to establish a pathogenic effect, particularly for variants in non-coding regions. Furthermore, the sheer number of candidate variants renders testing in individual assays virtually impossible. While scalable approaches are being developed, the selection of methods and resources, and the application of a given framework to a particular disease or trait remain major challenges. This limits the translation of results from both genome-wide association studies and genome sequencing. Here, we discuss computational and experimental approaches available for functional annotation of non-coding variation.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10081529/pdf/nihms-1887596.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9282791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29eCollection Date: 2022-12-01DOI: 10.1515/medgen-2022-2157
{"title":"Fehlende Berücksichtigung von genetischen Risikoparametern in der Leistungsverpflichtung der gesetzlichen oder privaten Krankenversicherungen.","authors":"","doi":"10.1515/medgen-2022-2157","DOIUrl":"10.1515/medgen-2022-2157","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49013097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29eCollection Date: 2022-12-01DOI: 10.1515/medgen-2022-2162
Susanne Boettcher, Matias Simons
Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies.
{"title":"Model organisms for functional validation in genetic renal disease.","authors":"Susanne Boettcher, Matias Simons","doi":"10.1515/medgen-2022-2162","DOIUrl":"10.1515/medgen-2022-2162","url":null,"abstract":"<p><p>Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45667672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29eCollection Date: 2022-12-01DOI: 10.1515/medgen-2022-2159
Phoebe Dace, Gregory M Findlay
Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of genomic medicine. Powerful methods for testing genetic variants for functional effects are allowing researchers to characterize thousands of variants across disease genes. Here, we review experimental tools enabling highly scalable assays of variants, focusing specifically on Saturation Genome Editing (SGE). We discuss examples of how this technique is being implemented for variant testing at scale and describe how SGE data for BRCA1 have been clinically validated and used to aid variant interpretation. The initial success at predicting variant pathogenicity with SGE has spurred efforts to expand this and related techniques to many more genes.
{"title":"Reducing uncertainty in genetic testing with Saturation Genome Editing.","authors":"Phoebe Dace, Gregory M Findlay","doi":"10.1515/medgen-2022-2159","DOIUrl":"10.1515/medgen-2022-2159","url":null,"abstract":"<p><p>Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of genomic medicine. Powerful methods for testing genetic variants for functional effects are allowing researchers to characterize thousands of variants across disease genes. Here, we review experimental tools enabling highly scalable assays of variants, focusing specifically on Saturation Genome Editing (SGE). We discuss examples of how this technique is being implemented for variant testing at scale and describe how SGE data for <i>BRCA1</i> have been clinically validated and used to aid variant interpretation. The initial success at predicting variant pathogenicity with SGE has spurred efforts to expand this and related techniques to many more genes.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46968959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-29eCollection Date: 2022-12-01DOI: 10.1515/medgen-2022-2166
{"title":"Bericht von der 21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik (ÖGH).","authors":"","doi":"10.1515/medgen-2022-2166","DOIUrl":"10.1515/medgen-2022-2166","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42927534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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