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In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
Compound heterozygotes occur when different variants at the same locus on both maternal and paternal chromosomes produce a recessive trait. Here we present the tool VarCount for the quantification of variants at the individual level. We used VarCount to characterize compound heterozygous coding vari...
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| Publicado no: | Genet Res (Camb) |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cambridge University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7045018/ https://ncbi.nlm.nih.gov/pubmed/31190668 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672319000065 |
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