EX-HOM (EXome HOMozygosity): A Proof of Principle

EX-HOM (EXome HOMozygosity): a proof of principle.

OBJECTIVE We provide the proof of principle that exome sequencing of only two affected siblings born to first-cousin parents is capable of directly identifying a single candidate gene for an autosomal recessive disorder. This strategy, which we call EX-HOM (EXome HOMozygosity), combines in a single step the capacity of exome sequencing to identify all the coding variants present in a genome wit...

A proof of a Parabolic Maximum Principle

Define the following parabolic operator in divergence form Lu ≡ ∂u ∂t − ∂ ∂x j a ij (x, t) ∂u ∂x i for (x, t) ∈ Ω T = Ω × (0, T ], where Ω is a bounded simply connected subset of R m for m ≥ 2 and T > 0 is a fixed but arbitrary positive number. We also assume that the a ij are bounded and measurable in ¯ Ω T and satisfy the uniform parabolicity condition: 1/ν |z| 2 ≤ m i,j=1 a ij (x, t)z i z j ...

Stellarator Proof of Principle Program

Hom - Algebras and Hom

The aim of this paper is to develop the theory of Hom-coalgebras and related structures. After reviewing some key constructions and examples of quasi-deformations of Lie algebras involving twisted derivations and giving rise to the class of quasi-Lie algebras incorporating Hom-Lie algebras, we describe the notion and some properties of Homalgebras and provide examples. We introduce Hom-coalgebr...

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

The aim of this study was to identify the genetic basis of a chorioretinal dystrophy with high myopia of unknown origin in a child of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with DNA samples of the proband and her parents by using the Human SNP Array 6.0. Whole exome sequencing (WES) was perfo...