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...

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Detalles Bibliográficos
Autores principales: Hager, Paul, Mewes, Hans-Werner, Rohlfs, Meino, Klein, Christoph, Jeske, Tim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
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

Internet

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

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