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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Genome Res
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cold Spring Harbor Laboratory Press 2019
Aiheet:
Research
Linkit: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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