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Author(s):  
Daiane Aparecida Zuanetti ◽  
Luis Aparecido Milan

In this paper, we propose a new Bayesian approach for QTL mapping of family data. The main purpose is to model a phenotype as a function of QTLs’ effects. The model considers the detailed familiar dependence and it does not rely on random effects. It combines the probability for Mendelian inheritance of parents’ genotype and the correlation between flanking markers and QTLs. This is an advance when compared with models which use only Mendelian segregation or only the correlation between markers and QTLs to estimate transmission probabilities. We use the Bayesian approach to estimate the number of QTLs, their location and the additive and dominance effects. We compare the performance of the proposed method with variance component and LASSO models using simulated and GAW17 data sets. Under tested conditions, the proposed method outperforms other methods in aspects such as estimating the number of QTLs, the accuracy of the QTLs’ position and the estimate of their effects. The results of the application of the proposed method to data sets exceeded all of our expectations.


Pedigree drawing is of special importance for genetic counseling and research on documenting families with inherited disease. Current pedigree-drawing tools fall into two types: those build pedigree diagrams from input family data, and those provide a graphical interface to draw pedigree directly. Here we merge the two types of programs into one, and release a brand new pedigree-drawing web server, PedigreeOnline. Through introducing a novel pedigree-like-layout (PLL) family data format and taking advantage of HTML5 canvas element in development, this program is able to build two-way interactive connections between family data and graphical interface. Users can work on and switch easily between the graphical interface and the family data window. Currently this web server is compatible with Linkage data format and comma-separated value (CSV) data format. These features make PedigreeOnline a pedigree-drawing tool with outstanding user-friendliness and flexibility. PedigreeOnline is freely accessible for everyone at: http://www.ig.zju.edu.cn/PedigreeOnline/


2021 ◽  
Vol 33 ◽  
pp. 103
Author(s):  
Irena Smetoniene

Bread is one of the oldest human-made foods. With the emergence of agriculture, it became a daily meal and so began to be appreciated, personalised and deified. The image of bread in small forms of folklore shows that it is the main food, so important that people are ready to work hard for it and even baking bread is considered difficult. The result of all this work is a person whose hunger is satiated, and the same is true of the entire family. Although all work is valuable, that of a plougher or generally of ordinary people is particularly appreciated because it is most strictly connected with bread and land. Considerable attention is paid to the quality of bread: it not only has to look nice but also be tasty. Bread allows one to differentiate one’s folk from strangers; it reminds one of home and motherland, functions as a symbol of stability and harmony in the family. Data from folklore highlight mutual relationships between bread and people: bread protects people from misfortunes, it heals and warns them of danger. Therefore, people protect and respect it and attribute magical qualities to it. This understanding of bread was typical of our ancestors. However, given that the data from folklore used in this study come from the 19th and early 20th c., the contemporary understanding of bread may be different.


2021 ◽  
Author(s):  
Ye Chen ◽  
Xiaohui Cang

Abstract Pedigree drawing is of special importance for genetic counseling and research on documenting families with inherited disease. Current pedigree-drawing tools fall into two types: those build pedigree diagrams from input family data, and those provide a graphical interface to draw pedigree directly. Here we merge the two types of programs into one, and release a brand new pedigree-drawing web server, PedigreeOnline. Through introducing a novel pedigree-like-layout (PLL) family data format and taking advantage of HTML5 canvas element in development, this program is able to build two-way interactive connections between family data and graphical interface. Users can work on and switch easily between the graphical interface and the family data window. Currently this web server is compatible with Linkage data format and comma-separated value (CSV) data format. These features make PedigreeOnline a pedigree-drawing tool with outstanding user-friendliness and flexibility. PedigreeOnline is freely accessible for everyone at: http://www.ig.zju.edu.cn/PedigreeOnline/


Marine Drugs ◽  
2021 ◽  
Vol 19 (8) ◽  
pp. 433
Author(s):  
Diaa T. A. Youssef ◽  
Hani Z. Asfour ◽  
Lamiaa A. Shaala

Bioassay-guided partition of the extract of the Red Sea sponge Pseudoceratina arabica and HPLC purification of the active fraction gave a psammaplysin dimer, psammaceratin (1), along with psammaplysin A (2). The dimer comprises two units of psammaplysin A (2) connected via the terminal amines with an unprecedented (2Z,3Z)-2,3-bis(aminomethylene)succinamide moiety, and it represents the first dimer to be identified among the psammaplysin family. Data from 1D- and 2D-NMR and HRMS supported the chemical structures of the compounds. Psammaceratin A (1) and psammaplysin A (2) exhibited significant growth inhibition of HCT 116, HeLa, and MBA-MB-231 cells down to 3.1 mM.


2021 ◽  
Vol 03 (04) ◽  
pp. 256-263
Author(s):  
Saodat Abdurashidovna Toshtemirova ◽  

This article analyzes ethno-demographic data, their study and, in turn, is based on population censuses. Historical aspects of ethno-demographic data in population censuses are presented. The analysis of family data in the censuses reflects the historical context of the family's lifestyle and social status, while also focusing on the ethnic composition of the population. An independent final opinion on the topic is given.


2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Kathleen E. Wilson ◽  
Ari M. Fish ◽  
Catherine Mankiw ◽  
Anastasia Xenophontos ◽  
Allysa Warling ◽  
...  

Abstract Background Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome—a sex chromosome aneuploidy that is known to increase risk for psychopathology. Methods We analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits. Results Proband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R2 ~ 0.4). Variability in family FSIQ also cross-predicted variability in proband ASD trait severity. Cluster analysis across all trait-relative pairings revealed that variability in parental psychopathology was more weakly coupled to their XYY versus their euploid offspring. Conclusions We present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. Trial registrations ClinicalTrials.govNCT00001246, “89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls.” Date of registry: 01 October 1989.


2021 ◽  
Vol 2 (1) ◽  
pp. 39-50
Author(s):  
Fajar Rudi Sartomo Samosir ◽  
Irfan Sudahri Damanik ◽  
Dedi Suhendro ◽  
Solikhun ◽  
Susiani

This study aims to determine the best service quality at the Pematangsiantar City Population and Civil Registration Office, which includes services for making Identity Cards (KTP), Family Cards (KK), birth certificates, marriage certificates and receipt making. The method used in this research is the Analytic Network Process (ANP) method. The data collection technique used is a questionnaire technique that is distributed directly to the people who come to take care of the needs of personal and family data files. The parameters used consist of the facilities provided, employee behavior, services, and provisions. Determining community satisfaction with a service can be seen from the quality of the type of service. The results of this study were obtained in rank-1 with a normal value of 0.49126400, rank-2 family cards with a value of 0.18988000, rank-3 birth certificates with a value of 0.16073800, marriage certificates rank-4 with a value of 0.09707200 and Finally, rank-5 receipt services with a value of 0.06104600 With this research it is hoped that it can help the Pematangsiantar City Population and Civil Registration Service to evaluate the services provided to the community in order to meet community expectations in terms of managing the needs of personal and family data files and knowing the types of best services.


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