Functional annotation of variants from healthy individuals
The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome sca...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Korea Genome Organization
2019-12-01
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| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf |
| _version_ | 1819047935060475904 |
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| author | Jean Lee Sung Eun Hong |
| author_facet | Jean Lee Sung Eun Hong |
| author_sort | Jean Lee |
| collection | DOAJ |
| description | The implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome scale, a large number of DNVs identified from the whole-genome sequencing of 1,902 healthy trios (i.e., parents and progeny) from the Simons Foundation for Autism Research Initiative study and 20 healthy Korean trios were analyzed. These apparently nonpathogenic DNVs were enriched in functional elements of the genome but relatively depleted in regions of common copy number variants, implying their potential function as triggers of evolution even in healthy groups. No strong mutational hotspots were identified. The pathogenicity of the DNVs was not strongly elevated, reflecting the health status of the cohort. The mutational signatures were consistent with previous studies. This study will serve as a reference for future DNV studies. |
| first_indexed | 2024-12-21T11:08:15Z |
| format | Article |
| id | doaj.art-83a95501eacc49558f35ddeed9d075df |
| institution | Directory Open Access Journal |
| issn | 2234-0742 |
| language | English |
| last_indexed | 2024-12-21T11:08:15Z |
| publishDate | 2019-12-01 |
| publisher | Korea Genome Organization |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj.art-83a95501eacc49558f35ddeed9d075df2022-12-21T19:06:09ZengKorea Genome OrganizationGenomics & Informatics2234-07422019-12-0117410.5808/GI.2019.17.4.e46590Functional annotation of variants from healthy individualsJean LeeSung Eun HongThe implications of germline de novo variants (DNVs) in diseases are well documented. Despite extensive research, inconsistencies between studies remain a challenge, and the distribution and genetic characteristics of DNVs need to be precisely evaluated. To address this issue at the whole-genome scale, a large number of DNVs identified from the whole-genome sequencing of 1,902 healthy trios (i.e., parents and progeny) from the Simons Foundation for Autism Research Initiative study and 20 healthy Korean trios were analyzed. These apparently nonpathogenic DNVs were enriched in functional elements of the genome but relatively depleted in regions of common copy number variants, implying their potential function as triggers of evolution even in healthy groups. No strong mutational hotspots were identified. The pathogenicity of the DNVs was not strongly elevated, reflecting the health status of the cohort. The mutational signatures were consistent with previous studies. This study will serve as a reference for future DNV studies.http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf variantsfunctional annotationhealthy populationwhole genome sequencing |
| spellingShingle | Jean Lee Sung Eun Hong Functional annotation of variants from healthy individuals Genomics & Informatics variants functional annotation healthy population whole genome sequencing |
| title | Functional annotation of variants from healthy individuals |
| title_full | Functional annotation of variants from healthy individuals |
| title_fullStr | Functional annotation of variants from healthy individuals |
| title_full_unstemmed | Functional annotation of variants from healthy individuals |
| title_short | Functional annotation of variants from healthy individuals |
| title_sort | functional annotation of variants from healthy individuals |
| topic | variants functional annotation healthy population whole genome sequencing |
| url | http://genominfo.org/upload/pdf/gi-2019-17-4-e46.pdf |
| work_keys_str_mv | AT jeanlee functionalannotationofvariantsfromhealthyindividuals AT sungeunhong functionalannotationofvariantsfromhealthyindividuals |