Large scale genetic studies in male infertility

2019 ◽  
Author(s):  
Frank Tuttelmann
Keyword(s):  
Male Infertility ◽  
Large Scale ◽  
Genetic Studies

The Use of Medical Record Linkage for Population and Genetic Studies

1969 ◽  
Vol 08 (01) ◽  
pp. 07-11 ◽  
Author(s):  
H. B. Newcombe
Keyword(s):  
Record Linkage ◽  
Large Scale ◽  
Medical Record Linkage ◽  
Canadian Province ◽  
Genetic Studies ◽  
Parental Characteristics ◽  
Family Histories ◽  
The Family ◽  
Large Populations ◽  
Machine Readable

Methods are described for deriving personal and family histories of birth, marriage, procreation, ill health and death, for large populations, from existing civil registrations of vital events and the routine records of ill health. Computers have been used to group together and »link« the separately derived records pertaining to successive events in the lives of the same individuals and families, rapidly and on a large scale. Most of the records employed are already available as machine readable punchcards and magnetic tapes, for statistical and administrative purposes, and only minor modifications have been made to the manner in which these are produced.As applied to the population of the Canadian province of British Columbia (currently about 2 million people) these methods have already yielded substantial information on the risks of disease: a) in the population, b) in relation to various parental characteristics, and c) as correlated with previous occurrences in the family histories.

scholarly journals Expert and self-assessment of lifetime symptoms and diagnosis of major depressive disorder in large-scale genetic studies in the general population

2017 ◽  
Vol 27 (5) ◽  
pp. 187-196 ◽  
Author(s):  
Jessica Martin ◽  
Fabian Streit ◽  
Jens Treutlein ◽  
Maren Lang ◽  
Josef Frank ◽  
...  
Keyword(s):  
Major Depressive Disorder ◽  
General Population ◽  
Depressive Disorder ◽  
Large Scale ◽  
Self Assessment ◽  
Major Depressive ◽  
Genetic Studies

High-throughput quantification of the mechanical competence of murine femora — A highly automated approach for large-scale genetic studies

Bone ◽  
2013 ◽  
Vol 55 (1) ◽  
pp. 216-221 ◽  
Author(s):  
D. Ruffoni ◽  
T. Kohler ◽  
R. Voide ◽  
A.J. Wirth ◽  
L.R. Donahue ◽  
...  
Keyword(s):  
High Throughput ◽  
Large Scale ◽  
Genetic Studies

scholarly journals The daunting polygenicity of mental illness: making a new map

2018 ◽  
Vol 373 (1742) ◽  
pp. 20170031 ◽  
Author(s):  
Steven E. Hyman
Keyword(s):  
Mental Health ◽  
Large Scale ◽  
Computational Models ◽  
Model Organisms ◽  
Human Biology ◽  
Genetic Studies ◽  
Computational Tools ◽  
Experimental Systems ◽  
Terra Incognita ◽  
Phenotypic Complexity

An epochal opportunity to elucidate the pathogenic mechanisms of psychiatric disorders has emerged from advances in genomic technology, new computational tools and the growth of international consortia committed to data sharing. The resulting large-scale, unbiased genetic studies have begun to yield new biological insights and with them the hope that a half century of stasis in psychiatric therapeutics will come to an end. Yet a sobering picture is coming into view; it reveals daunting genetic and phenotypic complexity portending enormous challenges for neurobiology. Successful exploitation of results from genetics will require eschewal of long-successful reductionist approaches to investigation of gene function, a commitment to supplanting much research now conducted in model organisms with human biology, and development of new experimental systems and computational models to analyse polygenic causal influences. In short, psychiatric neuroscience must develop a new scientific map to guide investigation through a polygenic terra incognita . This article is part of a discussion meeting issue ‘Of mice and mental health: facilitating dialogue between basic and clinical neuroscientists’.

scholarly journals Low historical rates of cuckoldry in a Western European human population traced by Y-chromosome and genealogical data

2013 ◽  
Vol 280 (1772) ◽  
pp. 20132400 ◽  
Author(s):  
M. H. D. Larmuseau ◽  
J. Vanoverbeke ◽  
A. Van Geystelen ◽  
G. Defraene ◽  
N. Vanderheyden ◽  
...  
Keyword(s):  
Human Population ◽  
Large Scale ◽  
Population Based ◽  
Genetic Studies ◽  
Extra Pair Paternity ◽  
Chromosomal Data ◽  
Alternative Reproductive Strategy ◽  
Human Sociobiology ◽  
Genealogical Data ◽  
Western European

Recent evidence suggests that seeking out extra-pair paternity (EPP) can be a viable alternative reproductive strategy for both males and females in many pair-bonded species, including humans. Accurate data on EPP rates in humans, however, are scant and mostly restricted to extant populations. Here, we provide the first large-scale, unbiased genetic study of historical EPP rates in a Western European human population based on combining Y-chromosomal data to infer genetic patrilineages with genealogical and surname data, which reflect known historical presumed paternity. Using two independent methods, we estimate that over the last few centuries, EPP rates in Flanders (Belgium) were only around 1–2% per generation. This figure is substantially lower than the 8–30% per generation reported in some behavioural studies on historical EPP rates, but comparable with the rates reported by other genetic studies of contemporary Western European populations. These results suggest that human EPP rates have not changed substantially during the last 400 years in Flanders and imply that legal genealogies rarely differ from the biological ones. This result has significant implications for a diverse set of fields, including human population genetics, historical demography, forensic science and human sociobiology.

Mining, characterization and application of transcriptome-based SSR markers in Chinese jiaotou

2018 ◽  
Vol 16 (4) ◽  
pp. 306-314
Author(s):  
Chan Liu ◽  
Qing Tang ◽  
Chaohua Cheng ◽  
Ying Xu ◽  
Zemao Yang ◽  
...  
Keyword(s):  
Ssr Markers ◽  
Large Scale ◽  
Trinucleotide Repeat ◽  
De Novo ◽  
Local Varieties ◽  
Genetic Studies ◽  
Oxidation Reduction ◽  
Ssr Loci ◽  
Wild Accessions ◽  
Expressed Sequence

AbstractChinese jiaotou is an economically important crop that is widely cultivated in East Asia. The lack of simple sequence repeat (SSR) markers has been a major obstacle for genetic studies of this crop. In the present study, SSR markers were developed for Chinese jiaotou on a large scale, based on the crop's transcriptome assembledde novoby a previous study. A search for SSR loci in the transcriptome's expressed sequence tags (ESTs) revealed 2157 SSRs, of which primer pairs could be developed for 1494. Among these resulting SSRs, trinucleotide repeat motifs were the most abundant type, with GAA/TTC motifs occurring most frequently. Analysing the annotated function of SSR-containing ESTs revealed that they enriched into the GO categories involved in transcription regulation, oxidation–reduction, transport, etc. The quality and transferability of these markers were also assessed using 100 randomly selected EST–SSRs, and the result showed that these markers were of good quality and possessed high cross-species transferability. In addition, the developed SSR markers were used to analyse the genetic diversity of 19 cultivated and four wild accessions, resulting in three distinct groups, cluster I, II and III. Interestingly, all four wild accessions were assigned to cluster III, and two local varieties from northern Hunan, China, were closely related to the wild genotypes. These results provide new insights into the origin of Chinese jiaotou. The EST–SSRs developed herein represent the first large-scale development of SSR markers in Chinese jiaotou, and they can be widely used for genetic studies of the crop.

Selection and Validation of Suitable Reference Genes for RT-qPCR Analysis in Apolygus lucorum (Hemiptera: Miridae)

2019 ◽  
Vol 113 (1) ◽  
pp. 451-460
Author(s):  
Jing Luo ◽  
Aoli Wang ◽  
Yanxia Cheng ◽  
Haoling Rong ◽  
Libin Guo ◽  
...  
Keyword(s):  
Reference Genes ◽  
Large Scale ◽  
Control Strategies ◽  
Quantitative Polymerase Chain Reaction ◽  
Life Stage ◽  
Genetic Studies ◽  
Apolygus Lucorum ◽  
Economic Significance ◽  
Stability Ranking ◽  
Suitable Reference

Abstract Apolygus lucorum (Meyer-Dür) is a destructive pest to >280 plants. Major economic significance and pesticide resistance issues have created a need for integrated pest management (e.g., RNAi, entomopathogen-based bioinsecticides) for A. lucorum. To better develop these control strategies, large-scale genetic studies involving gene-expression analysis are required and reverse transcription-quantitative polymerase chain reaction (RT-qPCR) is the most commonly used method. However, there have been no reports on appropriate reference genes in A. lucorum. Here, we evaluated nine widely utilized reference genes including EF1γ, RPL32, RPL27, SDH, TBP, ACT, ACT2, GAPDH, and βTUB for their expression stabilities in A. lucorum under five different conditions i.e., life stage, tissue, sex, dsRNA injection, and entomopathogen infection. Based on the gene stability ranking calculated by RefFinder, which integrates four algorithms (geNorm, delta Ct method, NormFinder, and BestKeeper), we recommend RPL27 and RPL32 as the most appropriate reference genes for molecular studies in different life stages and tissues; GAPDH and EF1γ for different sexes and entomopathogen infection studies; and RPL27 and EF1γ for RNAi studies. The results of this study will help improve the accuracy and reliability for normalizing the RT-qPCR data for further molecular analysis in A. lucorum.

scholarly journals Genetic profiling of Vietnamese population from large-scale genomic analysis of non-invasive prenatal testing data

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ngoc Hieu Tran ◽  
Thanh Binh Vo ◽  
Van Thong Nguyen ◽  
Nhat-Thang Tran ◽  
Thu-Huong Nhat Trinh ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Frequency Distribution ◽  
Genetic Variants ◽  
Large Scale ◽  
Genomic Analysis ◽  
Prenatal Testing ◽  
Allele Frequency Distribution ◽  
Genetic Studies ◽  
Non Invasive ◽  
Vietnamese Population

Abstract The under-representation of several ethnic groups in existing genetic databases and studies have undermined our understanding of the genetic variations and associated traits or diseases in many populations. Cost and technology limitations remain the challenges in performing large-scale genome sequencing projects in many developing countries, including Vietnam. As one of the most rapidly adopted genetic tests, non-invasive prenatal testing (NIPT) data offers an alternative untapped resource for genetic studies. Here we performed a large-scale genomic analysis of 2683 pregnant Vietnamese women using their NIPT data and identified a comprehensive set of 8,054,515 single-nucleotide polymorphisms, among which 8.2% were new to the Vietnamese population. Our study also revealed 24,487 disease-associated genetic variants and their allele frequency distribution, especially 5 pathogenic variants for prevalent genetic disorders in Vietnam. We also observed major discrepancies in the allele frequency distribution of disease-associated genetic variants between the Vietnamese and other populations, thus highlighting a need for genome-wide association studies dedicated to the Vietnamese population. The resulted database of Vietnamese genetic variants, their allele frequency distribution, and their associated diseases presents a valuable resource for future genetic studies.

scholarly journals The False Discovery Rate: A Key Concept in Large-Scale Genetic Studies

2010 ◽  
Vol 17 (1) ◽  
pp. 58-62 ◽  
Author(s):  
James J. Chen ◽  
Paula K. Robeson ◽  
Michael J. Schell
Keyword(s):  
False Discovery Rate ◽  
Large Scale ◽  
Genetic Studies ◽  
False Discovery
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