Search results for "tgfbr2"

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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…

2016

International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…

0301 basic medicinemedicine.medical_specialtyKnowledge BasesGenomicsmarfan-syndrome[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics030105 genetics & heredityBiologycomputer.software_genreGenomeExAC03 medical and health sciencesAnnotationincidental findingsGeneticsmedicineHumanspathogenicityGenetic Predisposition to Diseasetgfbr2ExomegenomeESPGenetics (clinical)Exome sequencing[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]variantsDatabasethoracic aortic-aneurysmsGenome HumanHigh-Throughput Nucleotide SequencingMYLKGenomicspredictionmutations3. Good healthMarfan syndrome030104 developmental biologydissection[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsCardiovascular DiseasesMutationMedical geneticsIdentification (biology)LSDB[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]computerexome
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