Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
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| Title: | Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. |
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| Authors: | Salfati, Elias L.1 (AUTHOR), Spencer, Emily G.1 (AUTHOR), Topol, Sarah E.1 (AUTHOR), Muse, Evan D.1,2 (AUTHOR), Rueda, Manuel1 (AUTHOR), Lucas, Jonathan R.3 (AUTHOR), Wagner, Glenn N.4 (AUTHOR), Campman, Steven4 (AUTHOR), Topol, Eric J.1,2 (AUTHOR), Torkamani, Ali1 (AUTHOR) atorkama@scripps.edu |
| Source: | Genome Medicine. 12/17/2019, Vol. 11 Issue 1, p1-8. 8p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 140395032 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Salfati%2C+Elias+L%2E%22">Salfati, Elias L.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Spencer%2C+Emily+G%2E%22">Spencer, Emily G.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Topol%2C+Sarah+E%2E%22">Topol, Sarah E.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Muse%2C+Evan+D%2E%22">Muse, Evan D.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rueda%2C+Manuel%22">Rueda, Manuel</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lucas%2C+Jonathan+R%2E%22">Lucas, Jonathan R.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wagner%2C+Glenn+N%2E%22">Wagner, Glenn N.</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campman%2C+Steven%22">Campman, Steven</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Topol%2C+Eric+J%2E%22">Topol, Eric J.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Torkamani%2C+Ali%22">Torkamani, Ali</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> atorkama@scripps.edu</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 12/17/2019, Vol. 11 Issue 1, p1-8. 8p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=140395032 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-019-0702-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 1 Titles: – TitleFull: Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Salfati, Elias L. – PersonEntity: Name: NameFull: Spencer, Emily G. – PersonEntity: Name: NameFull: Topol, Sarah E. – PersonEntity: Name: NameFull: Muse, Evan D. – PersonEntity: Name: NameFull: Rueda, Manuel – PersonEntity: Name: NameFull: Lucas, Jonathan R. – PersonEntity: Name: NameFull: Wagner, Glenn N. – PersonEntity: Name: NameFull: Campman, Steven – PersonEntity: Name: NameFull: Topol, Eric J. – PersonEntity: Name: NameFull: Torkamani, Ali IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 12 Text: 12/17/2019 Type: published Y: 2019 Identifiers: – Type: issn-print Value: 1756994X Numbering: – Type: volume Value: 11 – Type: issue Value: 1 Titles: – TitleFull: Genome Medicine Type: main |
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