Ultra-rare Disease and Genomics-Driven Precision Medicine
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis...
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| Format: | Article |
| Language: | English |
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BioMed Central
2016-06-01
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| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | http://genominfo.org/upload/pdf/gni-14-42.pdf |
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| _version_ | 1832569182323998720 |
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| author | Sangmoon Lee Murim Choi |
| author_facet | Sangmoon Lee Murim Choi |
| author_sort | Sangmoon Lee |
| collection | DOAJ |
| description | Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options. |
| format | Article |
| id | doaj-art-3fcf6454b8bc4aefb700ee3a8b36ac81 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2016-06-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-3fcf6454b8bc4aefb700ee3a8b36ac812025-02-02T22:58:13ZengBioMed CentralGenomics & Informatics1598-866X2234-07422016-06-01142424510.5808/GI.2016.14.2.42190Ultra-rare Disease and Genomics-Driven Precision MedicineSangmoon Lee0Murim Choi1Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Korea.Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.http://genominfo.org/upload/pdf/gni-14-42.pdfnext-generation sequencingpersonalized medicineprecision medicinerare diseasewhole exome sequencingwhole genome sequencing |
| spellingShingle | Sangmoon Lee Murim Choi Ultra-rare Disease and Genomics-Driven Precision Medicine Genomics & Informatics next-generation sequencing personalized medicine precision medicine rare disease whole exome sequencing whole genome sequencing |
| title | Ultra-rare Disease and Genomics-Driven Precision Medicine |
| title_full | Ultra-rare Disease and Genomics-Driven Precision Medicine |
| title_fullStr | Ultra-rare Disease and Genomics-Driven Precision Medicine |
| title_full_unstemmed | Ultra-rare Disease and Genomics-Driven Precision Medicine |
| title_short | Ultra-rare Disease and Genomics-Driven Precision Medicine |
| title_sort | ultra rare disease and genomics driven precision medicine |
| topic | next-generation sequencing personalized medicine precision medicine rare disease whole exome sequencing whole genome sequencing |
| url | http://genominfo.org/upload/pdf/gni-14-42.pdf |
| work_keys_str_mv | AT sangmoonlee ultrararediseaseandgenomicsdrivenprecisionmedicine AT murimchoi ultrararediseaseandgenomicsdrivenprecisionmedicine |