Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate...
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BioMed Central
2012-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-10-214.pdf |
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| author | Gerald Goh Murim Choi |
| author_facet | Gerald Goh Murim Choi |
| author_sort | Gerald Goh |
| collection | DOAJ |
| description | The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology. |
| format | Article |
| id | doaj-art-2dc4af33f33349718c4c216fe67edb9e |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2012-12-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-2dc4af33f33349718c4c216fe67edb9e2025-02-02T22:30:17ZengBioMed CentralGenomics & Informatics1598-866X2234-07422012-12-0110421421910.5808/GI.2012.10.4.21417Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human DiseasesGerald Goh0Murim Choi1Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.http://genominfo.org/upload/pdf/gni-10-214.pdfdiscovery of disease-causing variantsinherited human diseasenext-generation sequencingwhole exome sequencing |
| spellingShingle | Gerald Goh Murim Choi Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases Genomics & Informatics discovery of disease-causing variants inherited human disease next-generation sequencing whole exome sequencing |
| title | Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| title_full | Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| title_fullStr | Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| title_full_unstemmed | Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| title_short | Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases |
| title_sort | application of whole exome sequencing to identify disease causing variants in inherited human diseases |
| topic | discovery of disease-causing variants inherited human disease next-generation sequencing whole exome sequencing |
| url | http://genominfo.org/upload/pdf/gni-10-214.pdf |
| work_keys_str_mv | AT geraldgoh applicationofwholeexomesequencingtoidentifydiseasecausingvariantsininheritedhumandiseases AT murimchoi applicationofwholeexomesequencingtoidentifydiseasecausingvariantsininheritedhumandiseases |