Identifying disease alleles by genome sharing

Parkinson disease: identifying different players sharing a common principle

Parkinson disease is a multifactorial molecular disorder. Miscellaneous regulators have been characterized to date and their implication in disease progression is well documented. Compromised neuromuscular activity is a serious threat posed by malfunctioning of various regulators. The integrity and maintenance of neural architecture underpins neural activities. Despite the fact that various bre...

Learning, Identifying, Sharing

This article argues that a cooperatively-built well-organized shared knowledge base is a new – and, from certain viewpoints, optimal – kind of support (refining and integrating other kinds of supports) for the following three complementary tasks: learning about living entities (and how to identify them), supporting their identification, and sharing knowledge about them. This article gives the i...

Identifying insertion mutations by whole-genome sequencing.

Insertion mutagenesis via mobile genetic element is a common technique for the analysis of gene function in model organisms. Next-generation sequencing offers an attractive approach for localizing the site of insertion, but alignment-based mapping of mobile genetic elements is challenging. A computational method for identifying insertion sites is reported herein. The technique was validated by ...

Mammalian interspecies substitution of immune modulatory alleles by genome editing

We describe a fundamentally novel feat of animal genetic engineering: the precise and efficient substitution of an agronomic haplotype into a domesticated species. Zinc finger nuclease in-embryo editing of the RELA locus generated live born domestic pigs with the warthog RELA orthologue, associated with resilience to African Swine Fever. The ability to efficiently achieve interspecies allele in...

Editorial: “Disease-Only” alleles and genotypes in complex disorders?