Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, Martin Bruce Delatycki, Alison Yeung, Matthew Frank Hunter, David J. Amor, Natasha J. Brown, Chloe Stutterd, George McGillivray, Patrick Yap, Matthew Regan, Belinda Chong, Miriam Fanjul‐Fernández, Justine E. Marum, Dean Phelan, Lynn S. Pais, Susan M. White, Sebastian Lunke, Tiong Yang Tan
- ISSN / E-ISSN
- — / —
- DOI
- 10.1002/mgg3.1508 ↗
- Volume · Issue · Pages
- 8 · 11 · e1508-e1508
- Publisher
- John Wiley & Sons Inc.
- Article URL
- https://doi.org/10.1002/mgg3.1508 ↗
- Article details
- Unverified
Publication date (each date has its type and source)
23 Sep 2020
OpenAlex publication date · source: OpenAlex
| Type | Date | Source |
|---|---|---|
| OpenAlex publication date | 23 Sep 2020 | OpenAlex |
Keywords (as given): rare diseases; unsolved cases; copy number variation; trio sequencing; diagnostic yield
HEC Status at Publication Not the journal's current status
HEC Status at PublicationNot conclusive
Historical status could not be conclusively determined.
- HEC status cannot be determined for this date: no HEC list is recorded as in effect on it.
Best available information, not a definitive status: HEC status cannot be determined for this date: no HEC list is recorded as in effect on it.
- Journal
- Molecular genetics & genomic medicine
- Publication date used
- 23 Sep 2020 (OpenAlex publication date)
- Applicable HEC period
- None recorded for this date
- Category
- —
- Recognition status
- Unknown (NO_PERIOD_FOR_DATE)
- Source
- —
- Verification status
- Not available
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