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SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases
There is an increasing need to use genome and transcriptome sequencing to genetically diagnose patients suffering from suspected monogenic rare diseases. The proper detection of compound heterozygous variant combinations as disease-causing candidates is a challenge in diagnostic workflows as haploty...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7032729/ https://www.ncbi.nlm.nih.gov/pubmed/32032351 http://dx.doi.org/10.1371/journal.pcbi.1007613 |