Abstract：
:Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) or non-homologous end joining (NHEJ). Here, we present a short guide based on previously documented cases of disease-associated CNVs in order to provide a general view on the impact of repeated elements on the stability of the genomic sequence and consequently in the origin of the human pathogenic variome.
journal_name
Hum Genomicsjournal_title
Human genomicsauthors
Cardoso AR,Oliveira M,Amorim A,Azevedo Ldoi
10.1186/s40246-016-0088-9subject
Has Abstractpub_date
2016-09-23 00:00:00pages
30issue
1eissn
1473-9542issn
1479-7364pii
10.1186/s40246-016-0088-9journal_volume
10pub_type
杂志文章,评审相关文献
Human Genomics文献大全abstract：BACKGROUND:Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y ...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-015-0028-0
更新日期：2015-05-10 00:00:00
abstract：BACKGROUND:Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship betwee...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-020-00286-0
更新日期：2020-09-25 00:00:00
abstract：BACKGROUND:Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the under...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-8-10
更新日期：2014-06-30 00:00:00
abstract：:There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular environment throughout the body without requiring direct contact; for example, through the generation of a pro-in...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/s40246-020-00257-5
更新日期：2020-03-13 00:00:00
abstract：:This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two classes of procedures. Analysis of two different sets of SNP gen...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-2-2-144
更新日期：2005-06-01 00:00:00
abstract：:Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively parallel sequencing, but a conventional bioinformatics solution is costly and slow, cr...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-4-4-271
更新日期：2010-04-01 00:00:00
abstract：BACKGROUND:Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence demonstrates that dysfunctional TBX2 and TBX3 result in outflow tract malformations, implying that ...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-018-0176-0
更新日期：2018-09-17 00:00:00
abstract：:Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA targets present limited design options to lower GC-content sequences only. We have developed the MGB Eclipse Pro...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-1-3-209
更新日期：2004-03-01 00:00:00
abstract：:The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In a...
journal_title：Human genomics
pub_type： 杂志文章
doi：
更新日期：2004-05-01 00:00:00
abstract：UNLABELLED:Protein kinases play important roles in regulating signal transduction in eukaryotic cells. Due to evolutionary conserved binding sites in the catalytic domain of the kinases, most inhibitors that target these sites promiscuously inhibit multiple kinases. Quantitative analysis can reveal complex and unexpect...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-7-20
更新日期：2013-09-23 00:00:00
abstract：BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-1 occur in 87% of cases of ADPKD and mutations in polycystin-2 are...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-016-0095-x
更新日期：2016-11-21 00:00:00
abstract：:The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of 5-methylcytosine (5mC) to yield thymine. Cytosine methyl...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-4-6-406
更新日期：2010-08-01 00:00:00
abstract：BACKGROUND:Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrom...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-018-0133-y
更新日期：2018-01-19 00:00:00
abstract：BACKGROUND:Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings have been deposited to the GWAS catalog. So far, findings uncovering associations of single nucleot...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-019-0254-y
更新日期：2020-01-15 00:00:00
abstract：:In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger, as well as the globin-like fold. We show that indeed similar structures exist...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-6-10
更新日期：2012-08-02 00:00:00
abstract：BACKGROUND:Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis i...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-020-00294-0
更新日期：2020-12-07 00:00:00
abstract：:In silico toxicology methods are practical, evidence-based and high throughput, with varying accuracy. In silico approaches are of keen interest, not only to scientists in the private sector and to academic researchers worldwide, but also to the public. They are being increasingly evaluated and applied by regulators. ...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-5-3-200
更新日期：2011-03-01 00:00:00
abstract：:In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-1-1-20
更新日期：2003-11-01 00:00:00
abstract：BACKGROUND:Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. ...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-018-0132-z
更新日期：2018-01-15 00:00:00
abstract：:The detection of alternative splicing using microarray technology involves multiple computational steps: normalisation, filtering, detection and visualisation. In this review, these analyses are approached using the R and Bioconductor open-source computation solution. There is some discussion on how to integrate diffe...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-4-2-131
更新日期：2009-12-01 00:00:00
abstract：:Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other extra-ribosomal functions, such in replication, transcription, splicing or even ageing. This review provides a ...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-4-5-327
更新日期：2010-06-01 00:00:00
abstract：:Perifosine belongs to the class of alkylphospholipid analogues, which act primarily at the cell membrane, thereby targeting signal transduction pathways. In phase I/II clinical trials, perifosine has induced tumour regression and caused disease stabilisation in a variety of tumour types. The genetic determinants respo...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-3-1-53
更新日期：2008-09-01 00:00:00
abstract：:The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-1-6-456
更新日期：2004-11-01 00:00:00
abstract：:The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/dupl...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-1-2-126
更新日期：2004-01-01 00:00:00
abstract：:The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-2-6-422
更新日期：2006-06-01 00:00:00
abstract：BACKGROUND:Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colonizes the stomach, remains unknown. The study objective was to examine associations of sero-preva...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-019-0217-3
更新日期：2019-07-22 00:00:00
abstract：:Developing early detection biosensors for disease has been the long‒held goal of the Human Genome Project, but with little success. Conversely, the biological properties of the mitochondrion coupled with the relative simplicity of the mitochondrial genome give this organelle extraordinary functionality as a biosensor ...
journal_title：Human genomics
pub_type： 杂志文章,评审
doi：10.1186/1479-7364-6-3
更新日期：2012-07-05 00:00:00
abstract：:The Metabolism and Transport Drug Interaction Database (http://www.druginteractioninfo.org) is a web-based research and analysis tool developed in the Department of Pharmaceutics at the University of Washington. The database has the largest manually curated collection of data related to drug interactions in humans. Th...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/1479-7364-5-1-61
更新日期：2010-10-01 00:00:00
abstract：BACKGROUND:Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a nov...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-017-0124-4
更新日期：2017-11-14 00:00:00
abstract：BACKGROUND:Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients ...
journal_title：Human genomics
pub_type： 杂志文章
doi：10.1186/s40246-018-0178-y
更新日期：2018-10-04 00:00:00
