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Unlocking Mendelian disease using exome sequencing
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308044/ https://www.ncbi.nlm.nih.gov/pubmed/21920049 http://dx.doi.org/10.1186/gb-2011-12-9-228 |
| _version_ | 1782227383794794496 |
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| author | Gilissen, Christian Hoischen, Alexander Brunner, Han G Veltman, Joris A |
| author_facet | Gilissen, Christian Hoischen, Alexander Brunner, Han G Veltman, Joris A |
| author_sort | Gilissen, Christian |
| collection | PubMed |
| description | Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease. |
| format | Online Article Text |
| id | pubmed-3308044 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-33080442012-09-14 Unlocking Mendelian disease using exome sequencing Gilissen, Christian Hoischen, Alexander Brunner, Han G Veltman, Joris A Genome Biol Review Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease. BioMed Central 2011 2011-09-14 /pmc/articles/PMC3308044/ /pubmed/21920049 http://dx.doi.org/10.1186/gb-2011-12-9-228 Text en Copyright ©2011 BioMed Central Ltd. |
| spellingShingle | Review Gilissen, Christian Hoischen, Alexander Brunner, Han G Veltman, Joris A Unlocking Mendelian disease using exome sequencing |
| title | Unlocking Mendelian disease using exome sequencing |
| title_full | Unlocking Mendelian disease using exome sequencing |
| title_fullStr | Unlocking Mendelian disease using exome sequencing |
| title_full_unstemmed | Unlocking Mendelian disease using exome sequencing |
| title_short | Unlocking Mendelian disease using exome sequencing |
| title_sort | unlocking mendelian disease using exome sequencing |
| topic | Review |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308044/ https://www.ncbi.nlm.nih.gov/pubmed/21920049 http://dx.doi.org/10.1186/gb-2011-12-9-228 |
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