Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review
<p dir="ltr">The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guide...
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2021
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| _version_ | 1864513505621704704 |
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| author | Amal Elfatih (14778550) |
| author2 | Idris Mohammed (751020) Doua Abdelrahman (17280667) Borbala Mifsud (3907267) |
| author2_role | author author author |
| author_facet | Amal Elfatih (14778550) Idris Mohammed (751020) Doua Abdelrahman (17280667) Borbala Mifsud (3907267) |
| author_role | author |
| dc.creator.none.fl_str_mv | Amal Elfatih (14778550) Idris Mohammed (751020) Doua Abdelrahman (17280667) Borbala Mifsud (3907267) |
| dc.date.none.fl_str_mv | 2021-09-14T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1152/physiolgenomics.00025.2021 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Frequency_and_management_of_medically_actionable_incidental_findings_from_genome_and_exome_sequencing_data_a_systematic_review/26983885 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical physiology ACMG genes incidental findings whole exome/genome sequencing |
| dc.title.none.fl_str_mv | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the epidemiology of incidental findings in different populations. However, consensus guidelines for variant reporting and classification are still lacking. We conducted a systematic literature review of incidental findings in whole genome/exome sequencing studies to obtain a comprehensive understanding of variable reporting and classification methods for variants that are deemed to be medically actionable across different populations. The review highlights the elements that demand further consideration or adjustment.</p><h2>Other Information</h2><p dir="ltr">Published in: Physiological Genomics<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" rel="noreferrer" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1152/physiolgenomics.00025.2021" target="_blank">https://dx.doi.org/10.1152/physiolgenomics.00025.2021</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_34797448baa00ebb4536105016dda558 |
| identifier_str_mv | 10.1152/physiolgenomics.00025.2021 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26983885 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic reviewAmal Elfatih (14778550)Idris Mohammed (751020)Doua Abdelrahman (17280667)Borbala Mifsud (3907267)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesMedical physiologyACMG genesincidental findingswhole exome/genome sequencing<p dir="ltr">The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the epidemiology of incidental findings in different populations. However, consensus guidelines for variant reporting and classification are still lacking. We conducted a systematic literature review of incidental findings in whole genome/exome sequencing studies to obtain a comprehensive understanding of variable reporting and classification methods for variants that are deemed to be medically actionable across different populations. The review highlights the elements that demand further consideration or adjustment.</p><h2>Other Information</h2><p dir="ltr">Published in: Physiological Genomics<br>License: <a href="https://creativecommons.org/licenses/by/4.0/" rel="noreferrer" target="_blank">https://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1152/physiolgenomics.00025.2021" target="_blank">https://dx.doi.org/10.1152/physiolgenomics.00025.2021</a></p>2021-09-14T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1152/physiolgenomics.00025.2021https://figshare.com/articles/journal_contribution/Frequency_and_management_of_medically_actionable_incidental_findings_from_genome_and_exome_sequencing_data_a_systematic_review/26983885CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/269838852021-09-14T03:00:00Z |
| spellingShingle | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review Amal Elfatih (14778550) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical physiology ACMG genes incidental findings whole exome/genome sequencing |
| status_str | publishedVersion |
| title | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| title_full | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| title_fullStr | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| title_full_unstemmed | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| title_short | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| title_sort | Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Medical physiology ACMG genes incidental findings whole exome/genome sequencing |