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000155538 0247_ $$2pmc$$apmc:PMC8440686
000155538 0247_ $$2doi$$a10.1038/s41431-021-00852-7
000155538 0247_ $$2pmid$$apmid:34075210
000155538 0247_ $$2ISSN$$a1018-4813
000155538 0247_ $$2ISSN$$a1476-5438
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000155538 037__ $$aDZNE-2021-00717
000155538 041__ $$aEnglish
000155538 082__ $$a610
000155538 1001_ $$aMatalonga, Leslie$$b0
000155538 245__ $$aSolving patients with rare diseases through programmatic reanalysis of genome-phenome data.
000155538 260__ $$aBasingstoke$$bStockton Press$$c2021
000155538 3367_ $$2DRIVER$$aarticle
000155538 3367_ $$2DataCite$$aOutput Types/Journal article
000155538 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1636453530_20942
000155538 3367_ $$2BibTeX$$aARTICLE
000155538 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000155538 3367_ $$00$$2EndNote$$aJournal Article
000155538 520__ $$aReanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics.
000155538 536__ $$0G:(DE-HGF)POF4-353$$a353 - Clinical and Health Care Research (POF4-353)$$cPOF4-353$$fPOF IV$$x0
000155538 588__ $$aDataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
000155538 650_2 $$2MeSH$$aGenetic Testing: methods
000155538 650_2 $$2MeSH$$aGenetic Testing: standards
000155538 650_2 $$2MeSH$$aGenomics: methods
000155538 650_2 $$2MeSH$$aGenomics: standards
000155538 650_2 $$2MeSH$$aHumans
000155538 650_2 $$2MeSH$$aPedigree
000155538 650_2 $$2MeSH$$aRare Diseases: diagnosis
000155538 650_2 $$2MeSH$$aRare Diseases: genetics
000155538 650_2 $$2MeSH$$aSensitivity and Specificity
000155538 650_2 $$2MeSH$$aSoftware
000155538 7001_ $$00000-0002-8029-7160$$aHernández-Ferrer, Carles$$b1
000155538 7001_ $$aPiscia, Davide$$b2
000155538 7001_ $$agroup, Solve-RD SNV-indel working$$b3$$eCollaboration Author
000155538 7001_ $$0P:(DE-2719)2812018$$aSchüle-Freyer, Rebecca$$b4$$udzne
000155538 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b5$$udzne
000155538 7001_ $$aTöpf, Ana$$b6
000155538 7001_ $$00000-0001-6470-5497$$aVissers, Lisenka E L M$$b7
000155538 7001_ $$00000-0002-8222-0343$$ade Voer, Richarda$$b8
000155538 7001_ $$aDITF-GENTURIS, Solve-RD$$b9$$eCollaboration Author
000155538 7001_ $$aDITF-ITHACA, Solve-RD$$b10$$eCollaboration Author
000155538 7001_ $$aDITF-euroNMD, Solve-RD$$b11$$eCollaboration Author
000155538 7001_ $$aDITF-RND, Solve-RD$$b12$$eCollaboration Author
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000155538 7001_ $$aPapakonstantinou, Anastasios$$b18
000155538 7001_ $$aCorvó, Alberto$$b19
000155538 7001_ $$00000-0003-4463-0453$$aJoshi, Ricky$$b20
000155538 7001_ $$aDiez, Hector$$b21
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000155538 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-021-00852-7$$n9$$p1337-1347$$tEuropean journal of human genetics$$v29$$x1476-5438$$y2021
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