Sentence examples for genome disorders from inspiring English sources

In order to employ comparative genomics to study the molecular mechanism of genome disorders involving in complex duplicated regions, we propose that an alternative and probably more effective strategy is to establish a good reference of common CNVs for those regions.

In this closeup, Canales and Walz discuss how CNV are associated with normal variation, genomic disorders, genome evolution, adaptive traits and how the use of a novel screen described by Ermakova et al in this issue that is designed to identify human disease-relevant phenotypes associated with CNV in the mouse can help elucidating susceptibility or predisposition to diseases loci.

Copy number variants (CNVs) are pervasive in the human genome and are responsible for many Mendelian diseases and genomic disorders.

The concept of genomic disorders is predicated on two general ideas: firstly, that genomic disorders occur by rearrangements of our genome (the human genome is disordered) and not by DNA-sequence-based changes (that is, not by base-pair changes or by SNPs that cause disease); and secondly, that genome architecture incites genome instability.

Genomic disorders constitute a class of diseases that are associated with DNA rearrangements resulting from region-specific genome instability, that is, genome architecture incites genome instability.

Many of these homologous recombination repair proteins, including MRE11, NBS1, RAD50, BRCA1, and BRCA2 for example, are commonly mutated in human cancers and heritable genome instability disorders [5] [7].

The collision of RFs with ICLs triggers a multiprotein repair pathway that is defective in Fanconi anemia (FA), a genome stability disorder associated with bone marrow failure, cancer predisposition, and hypersensitivity to ICL-inducing agents (Constantinou 2012).

Consistent with its role in the DDR, a recent report showed that mutations of CtIP that generates a dominant-negative C-terminus truncated form of CtIP protein causes Seckel and Jawad Syndromes which is a genome instability disorder and associated with cancer predisposition [ 106].

Data on protein variants are cross-referenced to underlying transcript patterns, genome context, genetic disorders, and structural data.

The phenotypic outcomes may have been attributed to DNA damage or mutations, but increasing evidence shows that the inheritance of environmentally induced functional changes of the genome, and related disorders, are (also) driven by epigenetic components.

Last month Lesley Arfin interrogated Chris Nieratko about his new book, and other heady topics including the human genome, colony collapse disorder in American honeybees, and the Drexler Act.