Abstract:
:The use of genetically isolated populations can empower next-generation association studies. In this review, we discuss the advantages of this approach and review study design and analytical considerations of genetic association studies focusing on isolates. We cite successful examples of using population isolates in association studies and outline potential ways forward.
journal_name
Brief Funct Genomicsjournal_title
Briefings in functional genomicsauthors
Hatzikotoulas K,Gilly A,Zeggini Edoi
10.1093/bfgp/elu022subject
Has Abstractpub_date
2014-09-01 00:00:00pages
371-7issue
5eissn
2041-2649issn
2041-2657pii
elu022journal_volume
13pub_type
杂志文章,评审abstract::Piwi-interacting RNAs (piRNAs) and CRISPR RNAs (crRNAs) are two recently discovered classes of small noncoding RNA that are found in animals and prokaryotes, respectively. Both of these novel RNA species function as components of adaptive immune systems that protect their hosts from foreign nucleic acids-piRNAs repres...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els016
更新日期:2012-07-01 00:00:00
abstract::Genome editing allows for the versatile genetic modification of somatic cells, germ cells and embryos. In particular, CRISPR/Cas9 is worldwide used in biomedical research. Although the first report on Cas9-mediated gene modification in human embryos focused on the prevention of a genetic disease in offspring, it raise...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv053
更新日期:2017-01-01 00:00:00
abstract::High-throughput next-generation sequencing (NGS) technologies have rapidly generated a large volume of genomic data. To aid the development and evaluation of new statistical models and computational methods, NGS-based simulators have been proposed to construct better experimental workflows. However, the comparative pe...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elw012
更新日期:2017-05-01 00:00:00
abstract::Premature termination of transcription, or attenuation, is an efficient RNA-based regulatory strategy that is commonly used in bacterial organisms. Attenuators are generally located in the 50 untranslated regions of genes or operons and combine a Rho-independent terminator, controlling transcription, with an RNA eleme...
journal_title:Briefings in functional genomics
pub_type: 更正并重新发布的文章,杂志文章,评审
doi:10.1093/bfgp/elq008
更新日期:2010-03-01 00:00:00
abstract::Research on plant three-dimensional (3D) genome architecture made rapid progress over the past 5 years. Numerous Hi-C interaction data sets were generated in a wide range of plant species, allowing for a comprehensive overview on 3D chromosome folding principles in the plant kingdom. Plants lack important genes report...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elz024
更新日期:2020-03-23 00:00:00
abstract::Submitting sequences to the National Center for Biotechnology Information (NCBI) is an integral part of research and the publication process for many disciplines within the life sciences, and it will only become more important as sequencing technologies continue to improve. Here, I argue that the available infrastruct...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elaa016
更新日期:2020-12-04 00:00:00
abstract::A central environment and interface for microRNA (miRNA) registry and repository and a general standardized framework for their systematic annotation was established over a decade ago. However, the numbers of experimentally and computationally identified miRNAs are swiftly accumulating, and new aspects of miRNA-mediat...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv026
更新日期:2016-01-01 00:00:00
abstract::Less than 2% of the human genome DNA is composed of protein-coding genes, although the majority of the human genome is transcribed, indicating the transcripts mostly are noncoding RNAs. Those noncoding RNAs with length between 200 nt and 200 kb are categorized as long noncoding RNA (lncRNA). Around 30 000 lncRNAs have...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv049
更新日期:2016-05-01 00:00:00
abstract::Differential gene expression plays a critical role in the development and physiology of multicellular organisms. At a 'systems level' (e.g. at the level of a tissue, organ or whole organism), this process can be studied using gene regulatory network (GRN) models that capture physical and regulatory interactions betwee...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elp049
更新日期:2010-01-01 00:00:00
abstract::Pluripotent embryonic stem (ES) cells are specialized cells with a dynamic chromatin structure, which is intimately connected with their pluripotency and physiology. In recent years somatic cells have been reprogrammed to a pluripotent state through over-expression of a defined set of transcription factors. These cell...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elq038
更新日期:2011-01-01 00:00:00
abstract::Genetic variation is crucial for successful barley improvement. Genomic technologies are improving dramatically and are providing access to the genetic diversity within this important crop species. Diverse collections of barley germplasm are being assembled and mined via genome-wide association studies and the identif...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elu006
更新日期:2014-07-01 00:00:00
abstract::The epitome of any genome research is to identify all the existing genes in a genome and investigate their roles. Various techniques have been applied to unveil the functions either by silencing or over-expressing the genes by targeted expression or random mutagenesis. Rice is the most appropriate model crop for gener...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elw041
更新日期:2017-07-01 00:00:00
abstract::Lysine N-ε-acetylation is a post-translational modification that regulates the function of histone and non-histone proteins. In several malignancies, histone acetyltransferase (HAT) activities are disturbed as a consequence of various genetic or epigenetic alterations. In particular, HATs can function as tumor suppres...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els065
更新日期:2013-05-01 00:00:00
abstract::Prostate cancer (PCa) is the second most commonly diagnosed malignancy in men in the Western world and the second leading cause of cancer-related deaths among men worldwide. Although most cancers have the potential to metastasize under appropriate conditions, PCa favors the skeleton as a primary site of metastasis, su...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elt021
更新日期:2013-09-01 00:00:00
abstract::The specificity of protein-DNA interactions can be determined directly by sequencing the bound and unbound fractions in a standard binding reaction. The procedure is easy and inexpensive, and the accuracy can be high for thousands of sequences assayed in parallel. From the measurements, simple models of specificity, s...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu043
更新日期:2015-01-01 00:00:00
abstract::Defects in the initial establishment of cardiogenic cell fate are likely to contribute to pervasive human congenital cardiac abnormalities. However, the molecular underpinnings of nascent cardiac fate induction have proven difficult to decipher. In this review we explore the participation of extracellular, cellular an...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elt034
更新日期:2014-01-01 00:00:00
abstract::Neisseria meningitidis is a strictly human pathogen and is one of the major causes of septicemia and meningitis worldwide. Functional genomics approaches have been extensively applied to study how N. meningitidis adapts to grow and survive in different human niches encountered during the infection. DNA microarrays per...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elt018
更新日期:2013-07-01 00:00:00
abstract::The evolution of next-generation sequencing technologies has facilitated the detection of causal genetic variants in diseases previously undiagnosed at a molecular level. However, in genome sequencing studies, the identification of disease genes among a candidate gene list is often difficult because of the large numbe...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/ely033
更新日期:2019-02-14 00:00:00
abstract::Molecular network data are increasingly becoming available, necessitating the development of well performing computational tools for their analyses. Such tools enabled conceptually different approaches for exploring human diseases to be undertaken, in particular, those that study the relationship between a multitude o...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/els037
更新日期:2012-11-01 00:00:00
abstract::Gene Set Enrichment (GSE) is a computational technique which determines whether a priori defined set of genes show statistically significant differential expression between two phenotypes. Currently, the gene sets used for GSE are derived from annotation or pathway databases, which often contain computationally based ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elq021
更新日期:2010-12-01 00:00:00
abstract::In order to better understand several cellular processes, it is helpful to study how various components make up the system. This systems perspective is supported by several modelling tools including network analysis. Networks of protein-protein interactions (PPI networks) offer a way to depict, visualize and quantify ...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els035
更新日期:2012-11-01 00:00:00
abstract::Since the discovery of RNA splicing in 1977 the knowledge of this important biological process has increased steadily following the identification of many of the mechanistic features of splicing: from the basic cis-acting splicing signals, through the detail composition and dynamics of the spliceosome, to the role pla...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/els048
更新日期:2013-01-01 00:00:00
abstract::The Human Cell Atlas is a large, international consortium that aims to identify and describe every cell type in the human body. The comprehensive cellular maps that arise from this ambitious effort have the potential to transform many aspects of fundamental biology and clinical practice. Here, we discuss the technical...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elx029
更新日期:2018-07-01 00:00:00
abstract::Next generation Sequencing (NGS) provides a powerful tool for discovery of domestication genes in crop plants and their wild relatives. The accelerated domestication of new plant species as crops may be facilitated by this knowledge. Re-sequencing of domesticated genotypes can identify regions of low diversity associa...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elr032
更新日期:2012-01-01 00:00:00
abstract::A recent highlight of genomics research has been the discovery of many families of transcripts which have function but do not code for proteins. An important group is long noncoding RNAs (lncRNAs), which are typically longer than 200 nt, and whose members originate from thousands of loci across genomes. We review prog...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elu017
更新日期:2015-03-01 00:00:00
abstract::Chronic infection of hepatitis C virus (HCV) leads to severe life-threatening liver diseases such as cirrhosis of liver, fibrosis and hepatocellular carcinoma (HCC). Severity of the disease infects >180 million people worldwide. In recent years, many computational approaches have been proposed to study and analyze the...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elx040
更新日期:2018-11-26 00:00:00
abstract::The polycomb group (PcG) proteins are key epigenetic regulators of gene expression in animals and plants. They act in multiprotein complexes, of which the best characterized is the polycomb repressive complex 2 (PRC2), which catalyses the trimethylation of histone H3 at lysine 27 (H3K27me3) at chromatin targets. In Ar...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elw007
更新日期:2017-03-01 00:00:00
abstract::The human genome has an almost equal distribution of unique and transposable genetic elements. Although at the transcriptome level, a relatively higher contribution from transposable elements derived RNA has been reported. This is further highlighted with evidence from pervasive transcription. Of the total RNA, noncod...
journal_title:Briefings in functional genomics
pub_type: 杂志文章
doi:10.1093/bfgp/elaa026
更新日期:2021-01-25 00:00:00
abstract::The growing appreciation of the importance of long noncoding RNAs (lncRNAs), together with the awareness that some of these RNAs are associated with chromatin, has inspired the development of methods to detect their sites of interaction on a genome-wide scale at high resolution. Hybridization capture methods combine a...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elx038
更新日期:2018-03-01 00:00:00
abstract::Patterns of evolution in immune defense genes help to understand the evolutionary dynamics between hosts and pathogens. Multiple insect genomes have been sequenced, with many of them having annotated immune genes, which paves the way for a comparative genomic analysis of insect immunity. In this review, I summarize th...
journal_title:Briefings in functional genomics
pub_type: 杂志文章,评审
doi:10.1093/bfgp/elv002
更新日期:2015-11-01 00:00:00