A review of the 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package.

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

authors： Koromina M,Koutsilieri S,Patrinos GP

更新日期：2020-01-15 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

authors： Zhang L,Gao J,Liu H,Tian Y,Zhang X,Lei W,Li Y,Guo Y,Yu H,Yuan E,Liang L,Cui S,Zhang X

更新日期：2020-12-07 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

authors： Muhsen K,Sinnreich R,Merom D,Nassar H,Cohen D,Kark JD

更新日期：2019-07-22 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

authors： Alsemari A,Al-Younes B,Goljan E,Jaroudi D,BinHumaid F,Meyer BF,Arold ST,Monies D

更新日期：2017-11-14 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

authors： Chen M,Wang J,Luo Y,Huang K,Shi X,Liu Y,Li J,Lai Z,Xue S,Gao H,Chen A,Chen D

更新日期：2018-01-19 00:00:00

abstract：BACKGROUND:Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analyses of multiple regions of a genome in a single reaction format and has been shown to be a cost-effe...

journal_title：Human genomics

authors： Sultana N,Rahman M,Myti S,Islam J,Mustafa MG,Nag K

更新日期：2019-07-04 00:00:00

abstract：:The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated translation. Examples of potential disruptors such as laboratory-developed tests, direct-to-consumer testing, and...

journal_title：Human genomics

authors： Williams MS

更新日期：2015-06-14 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

authors： Hou B,Jia X,Deng Z,Liu X,Liu H,Yu H,Liu S

更新日期：2020-09-25 00:00:00

abstract：BACKGROUND:Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantation failures for individuals who undergo in vitro fertilization-embryo transfer (IVF-ET) to constitut...

journal_title：Human genomics

authors： Lee JY,Ahn EH,Kim JO,Park HS,Ryu CS,Kim JH,Kim YR,Lee WS,Kim NK

更新日期：2019-12-16 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

authors： Hachad H,Ragueneau-Majlessi I,Levy RH

更新日期：2010-10-01 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

authors： Toren A,Reichardt JK,Andalibi A,Hsu NY,Doherty J,Slattery W,Mehrian-Shai R

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

authors： Nayyar A,Gindina S,Barron A,Hu Y,Danias J

更新日期：2020-03-13 00:00:00

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

authors： Maasalu K,Nikopensius T,Kõks S,Nõukas M,Kals M,Prans E,Zhytnik L,Metspalu A,Märtson A

更新日期：2015-05-10 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

authors： Valerio LG Jr

更新日期：2011-03-01 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

authors： Zhang W,Liu W,Poradosu E,Ratain MJ

更新日期：2008-09-01 00:00:00

abstract：BACKGROUND:Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screen...

journal_title：Human genomics

authors： Chen Y,Yu Q,Mao X,Lei W,He M,Lu W

更新日期：2019-11-29 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

authors： Stram DO

更新日期：2005-06-01 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

authors： Devriendt K,Vermeesch JR

更新日期：2004-01-01 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

authors： Parr RL,Martin LH

更新日期：2012-07-05 00:00:00

abstract：:The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This exclusion is significant, since the X chromosome contains a high density of immune-related genes and regulator...

journal_title：Human genomics

authors： Schurz H,Salie M,Tromp G,Hoal EG,Kinnear CJ,Möller M

更新日期：2019-01-08 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

authors： Kim J,Yoo M,Kang J,Tan AC

更新日期：2013-09-23 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

authors： Xie H,Zhang E,Hong N,Fu Q,Li F,Chen S,Yu Y,Sun K

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

authors： Belousov YS,Welch RA,Sanders S,Mills A,Kulchenko A,Dempcy R,Afonina IA,Walburger DK,Glaser CL,Yadavalli S,Vermeulen NM,Mahoney W

更新日期：2004-03-01 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

authors： Zhang X,Roeder K,Wallstrom G,Devlin B

更新日期：2003-11-01 00:00:00

abstract：:Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...

journal_title：Human genomics

authors： Shukla SJ,Duan S,Wu X,Badner JA,Kasza K,Dolan ME

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:Genetic factors such as single-nucleotide polymorphisms (SNPs) play a key role in the development of postoperative nausea and vomiting (PONV). However, previous findings are not widely applicable to different populations because of population-specific genetic variation. We developed a Japanese-specific DNA m...

journal_title：Human genomics

authors： Sugino S,Konno D,Kawai Y,Nagasaki M,Endo Y,Hayase T,Yamazaki-Higuchi M,Kumeta Y,Tachibana S,Saito K,Suzuki J,Kido K,Kurosawa N,Namiki A,Yamauchi M

更新日期：2020-09-14 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

authors： Cooper DN,Mort M,Stenson PD,Ball EV,Chuzhanova NA

更新日期：2010-08-01 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

authors： Bhavsar RB,Makley LN,Tsonis PA

更新日期：2010-06-01 00:00:00

abstract：BACKGROUND:Neurodegenerative diseases (NGDs) such as Alzheimer's and Parkinson's are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environm...

journal_title：Human genomics

authors： Wang YA,Kammenga JE,Harvey SC

更新日期：2017-05-25 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

authors： Kaeberlein M

更新日期：2006-06-01 00:00:00