Abstract: A kit for use in an apparatus for a genetic screening, where the kit when in operation, performs a wet-lab assay. The assay includes processing genetic material that is derived from one or more cell exomes, and detecting single nucleotide variants (SNVs), indels and copy number variations (CNVs) in genetic DNA readout from genetic material. The kit is executable as single assay that processes the genetic material. The kit includes a software product that is executable on a computing hardware to cause the computing hardware to invoke algorithms to process the genetic DNA readout by comparing portions of the genetic DNA readout against DNA sequence transcripts, to determine a probability of occurrence of the DNA sequence transcripts in the DNA readout data. The algorithms are used to detect both SNVs and CNVs concurrently in the genetic DNA readout from the genetic material and annotate clinically relevant CNVs.

Abstract: The present invention relates to a polynucleotide encoding the corneodesmosin protein having one or more nucleotide insertions, deletions, or substitutions at one or more novel positions. The invention also relates to the corneodesmosin protein having one or more amino acid insertions, deletions, and substitutions. These nucleotide and amino acid polymorphisms are useful in diagnosing or determining susceptibility to corneodesmosin-mediated disease, such as inflammatory diseases, including psoriasis, and in treating such disease. Host cells and transgenic non-human animals comprising polynucleotides or proteins of the invention are provided. Methods of screening for agents for use in treating corneodesmosin-mediated disease are also provided.

Abstract: The present invention relates to a polynucleotide encoding the corneodesmosin protein having one or more nucleotide insertions, deletions or substitutions at one or novel positions. The invention also relates to the corneodesmosin protein having one or more amino acid insertions, deletions and substitutions. These nucleotide and amino acid polymorphisms are useful in diagnosing or determining susceptibility to corneodesmosin-mediated disease, for example inflammatory diseases including psoriasis, and in treating such disease. Host cells and transgenic non-human animals comprising polynucleotides or proteins of the invention are provided. Methods of screening for agents for use in treating corneodesmosin-mediated disease are also provided.

Abstract: The present invention relates to an isolated nucleic acid sequence which encodes a novel protein, where the protein is a new member in a family of enzymes with peptidase activity. Also provided is the use of the nucleic acid sequence and/or protein in medicine and research, a method for diagnosing, or determining predisposition to disease, methods for preventing or treating disease, and kits for use in the methods and the use of the nucleic acid sequence, protein and inhibitors thereof in treating or preventing inflammatory diseases, and in screens for identifying new inhibitors. Also provided are nucleic acid expression vectors, host cells, screens and non-human transgenic animals.

Abstract: The present invention relates to a polynucleotide encoding the corneodesmosin protein having one or more nucleotide insertions, deletions or substitutions at one or novel positions. The invention also relates to the corneodesmosin protein having one or more amino acid insertions, deletions and substitutions. These nucleotide and amino acid polymorphisms are useful in diagnosing or determining susceptibility to corneodesmosin-mediated disease, for example inflammatory diseases including psoriasis, and in treating such disease. Host cells and transgenic non-human animals comprising polynucleotides or proteins of the invention are provided. Methods of screening for agents for use in treating corneodesmosin-mediated disease are also provided.