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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Détails bibliographiques
Publié dans:Genome Res
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Cold Spring Harbor Laboratory Press 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6633265/
https://ncbi.nlm.nih.gov/pubmed/31227601
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.239756.118
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