Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Approximately 2% of de novo single-nucleotide variants (SNVs) appear as part of clustered mutations that create multinucleotide variants (MNVs). MNVs are an important source of genomic variability as they are more likely to alter an encoded protein than a SNV, which has important implications in dis...

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Detalles Bibliográficos
Autores principales: Kaplanis, Joanna, Akawi, Nadia, Gallone, Giuseppe, McRae, Jeremy F., Prigmore, Elena, Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633265/
https://www.ncbi.nlm.nih.gov/pubmed/31227601
http://dx.doi.org/10.1101/gr.239756.118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633265/
https://www.ncbi.nlm.nih.gov/pubmed/31227601
http://dx.doi.org/10.1101/gr.239756.118

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