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Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single-gene or small-panel PCR-based methods can help to identify the precise genetic cause, but they can be slow and...
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| Publicat a: | Am J Hum Genet |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6288141/ https://ncbi.nlm.nih.gov/pubmed/30503517 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.015 |
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