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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Detalles Bibliográficos
Autores principales: Cox, Allison J., Grady, Fillan, Velez, Gabriel, Mahajan, Vinit B., Ferguson, Polly J., Kitchen, Andrew, Darbro, Benjamin W., Bassuk, Alexander G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045018/
https://www.ncbi.nlm.nih.gov/pubmed/31190668
http://dx.doi.org/10.1017/S0016672319000065

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