scholarly journals Statistical Tests for Detecting Rare Variants Using Variance-Stabilising Transformations

2012 ◽  
Vol 76 (5) ◽  
pp. 402-409 ◽  
Author(s):  
Kai Wang ◽  
John H. Fingert
Keyword(s):  
Rare Variants ◽  
Statistical Tests

scholarly journals Inherited rare, deleterious variants in ATM increase lung adenocarcinoma risk

2020 ◽  
Author(s):  
Myvizhi Esai Selvan ◽  
Marjorie G. Zauderer ◽  
Charles M. Rudin ◽  
Siân Jones ◽  
Semanti Mukherjee ◽  
...  
Keyword(s):  
Rare Variants ◽  
Statistical Tests ◽  
Treatment Options ◽  
Ct Scanning ◽  
Cancer Syndrome ◽  
Whole Exome ◽  
Gene Level ◽  
Prevalent Subtype ◽  
Penalized Logistic Regression ◽  
Control Association

ABSTRACTIntroductionLung cancer is the leading cause of cancer deaths in the world, and adenocarcinoma (LUAD) is its most prevalent subtype. Symptoms often appear in advanced disease when treatment options are limited. Identifying genetic risk factors will enable better identification of high-risk individuals.MethodsTo identify LUAD risk genes, we performed a case-control association study for gene-level burden of rare, deleterious variants (RDVs) in germline whole-exome sequencing (WES) data of 1,083 LUAD patients and 7,650 controls, split into discovery and validation cohorts. Of these, we performed WES on 97 patients and acquired the rest from multiple public databases. We annotated all rare variants for pathogenicity conservatively, using ACMG guidelines and ClinVar curation, and investigated gene-level RDV burden using penalized logistic regression. All statistical tests were two-sided.ResultsWe discovered and replicated the finding that the burden of germline ATM RDVs was significantly higher in LUAD patients versus controls (ORcombined=4.6; p=1.7e-04; 95% CI=2.2–9.5; 1.21% of cases; 0.24% of controls). Germline ATM RDVs were also enriched in an independent clinical cohort of 1,594 patients from the MSK-IMPACT study (0.63%). Additionally, we observed that an Ashkenazi Jewish (AJ) founder ATM variant, rs56009889, was statistically significantly more frequent in AJ cases versus AJ controls in our cohort (ORcombined, AJ=2.7, p=6.9e-03, 95% CI=1.3–5.3).ConclusionsOur results indicate that ATM is a moderate-penetrance LUAD risk gene, and that LUAD may be part of the ATM-related cancer syndrome spectrum. Individuals with ATM RDVs are at elevated LUAD risk and can benefit from increased surveillance (particularly CT scanning), early detection and chemoprevention programs, improving prognosis.

scholarly journals Comparison of Statistical Tests for Association between Rare Variants and Binary Traits

PLoS ONE ◽  
2012 ◽  
Vol 7 (8) ◽  
pp. e42530 ◽  
Author(s):  
Silviu-Alin Bacanu ◽  
Matthew R. Nelson ◽  
John C. Whittaker
Keyword(s):  
Rare Variants ◽  
Statistical Tests ◽  
Binary Traits ◽  
Tests For Association

Comparação de testes coproparasitológicos em criadouro comercial de psitacídeos exóticos

2020 ◽  
Vol 3 (5) ◽  
pp. 100-107
Author(s):  
Marina Camargo de Sousa ◽  
◽  
Julia Ronzani Vial ◽  
Rodrigo Hidalgo Friciello Teixeira ◽  
Andrea Cristina Higa Nakaghi ◽  
...  
Keyword(s):  
Statistical Tests ◽  
Companion Animals ◽  
Clinical Importance ◽  
Breeding Site ◽  
Chi Square ◽  
Fecal Samples ◽  
Breeding Sites ◽  
Specificity And Sensitivity ◽  
Nematode Eggs ◽  
Commercial Breeding

Birds of the psittaciform order, composed by the Psittacidae and Loridae family have several characteristics making them more frequently kept as companion animals, promoting the increase of breeding sites in Brazil. The present study aimed to analyze the specificity and sensitivity of three different coproparasitological tests, Willis, Hoffman and Direto de feces, through statistical tests: Chi-Square and Kappa. 70 fecal samples of exotic parrots were collected from a commercial breeding site and these were submitted to the three tests, totaling 210 coproparasitological exams. Among the tests performed, 29,5% were positive for nematode eggs, cestodes and oocysts. Coproparasitological exams are inexpensive, have clinical importance, indicating the population of endoparasites and therapeutic treatments.

HUBUNGAN DUKUNGAN KELUARGA TERHADAP TINGKAT KEMANDIRIAN ANAK RETARDASI MENTAL

2019 ◽  
Vol 11 (2) ◽  
pp. 87-92
Author(s):  
Dwi Indah Iswanti ◽  
Fery Agusman Motuho Mendrofa ◽  
Diyanto Diyanto
Keyword(s):  
Family Support ◽  
Quantitative Method ◽  
Statistical Tests ◽  
Sampling Technique ◽  
Mentally Retarded ◽  
P Value ◽  
Cross Sectional ◽  
Need Support ◽  
The Family ◽  
Mentally Retarded Children

Kemandirian bukanlah keterampilan yang muncul secara tiba-tiba tetapi perlu diajarkan dan dilatih pada anak agar tidak menghambat tugas- tugas perkembangan anak selanjutnya. Terutama pada anak yang mengalami retardasi mental akan sangat membutuhkan dukungan dari keluarga. Tujuan penelitian untuk mengetahui hubungan  dukungan keluarga dengan tingkat kemandirian anak retardasi mental di SLB Negeri Semarang. Penelitian ini menggunakan metode kuantitatif dengan pendekatan cross sectional. Populasi dalam penelitian ini adalah seluruh orang tua siswa kelas IV-VI di SLB Negeri Semarang yang berjumlah 64 siswa. Teknik sampling yang digunakan adalah total sampling. Dukungan keluarga pada anak retardasi mental sebagian besar adalah mendukung yaitu sebanyak 53,1%, kemandirian anak retardasi mental sebagian besar adalah kurang mandiri yaitu sebanyak 53,1%. Hasil uji statistik menemukan ada hubungan antara dukungan keluarga dengan kemandirian anak retardasi mental di SLB Negeri Semarang, dengan p value sebesar 0,000.   Kata kunci : dukungan keluarga, kemandirian anak retardasi mental THE CORRELATION BETWEEN FAMILY SUPPORT AND THE LEVEL OF INDEPENDENCE OF MENTALLY RETARDED CHILDREN   ABSTRACT Independence is not a skill that emerges suddenly but needs to be taught and trained in children so as not to inhibit the tasks of further child development. Especially for children who are mentally retarded, they will need support from the family. Research objectives to find out the correlation between family support and the level of independence of mentally retarded children in extraordinary school State of Semarang. This study uses a quantitative method with a cross sectional approach. The population in this study were all parents of students in class IV-VI in Semarang State SLB, amounting to 64 students. The sampling technique used is total sampling. Family support for mentally retarded children was mostly supportive, as much as 53.1%, the independence of most mentally retarded children was less independent, which was as much as 53.1%. The results of statistical tests found that there was a correlation between family support and the independence of mentally retarded children in Semarang State SLB, with a p value of 0,000.   Keywords: family support, independence of mentally retarded children

HUBUNGAN JENIS PERSALINAN DENGAN STATUS KESEHATAN BAYI BARU LAHIR DI KOTA BUKITTINGGI

2019 ◽  
Vol 1 (1) ◽  
pp. 29
Author(s):  
Nurhayati Nurhayati
Keyword(s):  
Health Status ◽  
Infectious Diseases ◽  
Apgar Score ◽  
Health Workers ◽  
Statistical Tests ◽  
City Hospital ◽  
Cross Sectional ◽  
Normal Delivery ◽  
Meconium Aspiration ◽  
Respiratory Conditions

<p><em>Every woman wants her labor to run smoothly and can give birth to a baby perfectly. Childbirth can run normally, but it is not uncommon for labor to experience obstacles and must be done through surgery. This means the fetus and mother are in an emergency and can only be saved if labor is performed by surgery. The purpose of this study is to find out the related to the health status of newborn babies at delivery in the City of Bukittinggi.</em></p><p><em>Type of analytic survey research with design cross-sectional</em><em>.</em><em>The object of the study was a newborn baby with Caesarean section and normal delivery at Bukittinggi City Hospital. The test used is thetest Chi-Square with a 95% confidence level.</em></p><p><em>The results showed that as many as 65 people (54.2%) had the incidence of asphyxia. 65 people (54.2%) had normal respiratory conditions, 62 people (51.7%) had meconium aspiration</em><em>.</em><em>63 people (52.5%) had trauma to an abnormal baby</em><em>.</em><em>64 people (53.3%) had infectious diseases. 70 people (58.3%) had IMD.</em><em>72 people (60%) have joined care. 60 people (50%) with type of labor SC. Statistical tests showed that there was a relationship between apgar score (p = 0.003), respiratory conditions (p = 0.010), meconium aspiration (p = 0.0005), trauma in infants (p = 0.0005), joint care (p = 0.002 ) and IMD (p = 0.0005) for the type of labor. While infectious diseases do not have a relationship to the type of labor (p = 0.583).</em></p><p><em>It was concluded that there was a relationship between apgar score, respiratory condition, meconium aspiration, admission and IMD with different types of delivery. Expected to health workers especially midwives can be used as input in order to improve health status in newborns.</em></p>

Analisis Faktor Determinan Pelaksanaan Inisiasi Menyusu Dini Oleh Bidan Di Rumah Sakit Umum Anutapura Palu

2018 ◽  
Vol 1 (1) ◽  
pp. 34
Author(s):  
Ni Nyoman Novita ◽  
Gusman Arsyad
Keyword(s):  
Emergency Room ◽  
Peer Support ◽  
Statistical Tests ◽  
Bivariate Analysis ◽  
P Value ◽  
Chi Square ◽  
Cross Sectional ◽  
Implementation Processes ◽  
Chi Square Test ◽  
The Government

Implementation of IMD in hospitals has decreased from the previous year and has not reached the target set by the government. Some IMD implementation processes have not been carried out according to applicable standards. So that babies do not get an IMD in accordance with existing SOPs. The purpose of this study was to determine the determinant factors associated with the implementation of the IMD by midwives in the Midwifery and Maternity Room Emergency Room (IGD) at the Anutapura General Hospital in Palu. This research method is analytical with cross sectional approach. The population of this study was that all midwives in the obstetrics emergency room and maternity room at Anutapura Palu Hospital were 37 respondents. The sample in this study is total sampling. The analysis used was univariate, and bivariate analysis using the chi square test with a confidence level of 95% (α = 0.05). The results of statistical tests on variable knowledge of midwives with the implementation of IMD p value: 0.018 (p value <0.05). APN training with the implementation of IMD p value: 0.697 (p value> 0.05). length of work with the implementation of IMD p value: 0.029 (p value <0.05). and peer support with the implementation of IMD p value: 0.007 (p value <0.05). Conclusions there is a relationship between knowledge, length of work, peer support with the implementation of the IMD, and training factors that have nothing to do with IMD implementation. The strongest factor in the relationship is peer support. It is recommended that the Anutarapura Palu Hospital be able to motivate midwives so that they can further enhance their role in the implementation and provide support to their colleagues so that the implementation of the IMD can be carried out in accordance with applicable standards.Keywords: Knowledge, APN Training, Duration of work, Implementation of IMD

Effect of Compensation and Work Environment on Employee Performance with Employee Job Satisfaction as an Intervening Variable

2018 ◽  
Vol 9 (03) ◽  
pp. 20553-20562
Author(s):  
Putu Ayu Diah Juliarti ◽  
Anak Agung Putu Agung ◽  
I Nengah Sudja
Keyword(s):  
Job Satisfaction ◽  
Work Environment ◽  
High Performance ◽  
Employee Performance ◽  
Statistical Tests ◽  
Path Coefficient ◽  
Significant Positive Effect ◽  
Organizational Goals ◽  
Record Keeping ◽  
Positive Effect

An employee who has a high performance and better able to support the achievement of the goals and objectives set by the company. Employees can work well if you have a high performance that can produce good work anyway. With the high- performance that employees, is expected to achieve organizational goals. This study examines the effect of compensation and work environment on employee performance with job satisfaction to be intervening variable. Data on compensation, work environment, job satisfaction, and employee performance obtained through observation, record keeping and questioner with respondents. The data obtained are then analyzed using Partial Least Squares (PLS). Statistical tests results showed  (1) the compensation proved significant positive effect on job satisfaction the path coefficient of 0.434 and T-Stats for 4.880, (2) work environment proved to be a significant positive effect on job satisfaction the path coefficient of 0.434 and T-Stats for 4.074, (3) job satisfaction proved to be a significant positive effect on employee performance the path coefficient of 0.264 and T-Stats for 2.458, (4) compensation proved positive and significant effect employee performance the path coefficient of 0.242 and T-Stats for 2.912, (5) work environment proved positive and significant effect employee performance the path coefficient of 0.378 and T-Stats for 3.343. Based on test results obtained statistical results of all variables positive and signicant impact.

Challenges in perspective of life skills acquisition; implication for placement of life skills in university curriculum

2020 ◽  
Vol 24 (4) ◽  
pp. 189-194
Author(s):  
Wasim Khan ◽  
Salahuddin Khan ◽  
Tasleem Arif ◽  
Sohail R. Khan
Keyword(s):  
Life Skills ◽  
Student Athletes ◽  
Statistical Tests ◽  
Sampling Technique ◽  
Simple Random Sampling ◽  
Target Population ◽  
Skills Acquisition ◽  
Significance Level ◽  
Khyber Pakhtunkhwa ◽  
Educational Curriculum

Background and Study Aim: The main purpose behind the study was to establish the challenges in relation to the acquisition of life skills among university student-athletes of Khyber Pakhtunkhwa. The study assessed the extent to which the concern existing resources, facilitators, and trainer attitude influences life skills acquisition among student-athletes. Material and Methods: Descriptive survey research design was followed to obtain desirable results. The target population of this study consisted of all those who participated in different sport at the university level of Khyber Pakhtunkhwa (KP), Pakistan. Amongst them, we selected a representative sample (n=389 fifty 50% of the total population) with the help of a simple random sampling technique. The Statistical Package for Social Sciences (SPSS) version, 24 was used to code and analyse the data. The hypotheses were tested by applying statistical tests like Step-wise regression and independents sample t-test. The significance level of 0.05 was fixed to accept or reject the set hypotheses. Results: Findings of the study indicated that existing resources, facilitators, and trainer/coach attitude significantly influences life skills acquisition among student-athletes (.001, .001 & .000 < .05). The analysed data revealed no significantly difference regarding extent to which specific challenges such as existing resources, facilitators, and trainer attitude influences the acquisition of life skills (.500, .133 & .149 > .05). Conclusions: The findings of the study revealed that all participants have agreed upon the importance of life skills. Therefore, the life skills course might be considered as an integral part of every educational curriculum of Pakistan. It is suggested that a minimum of 2 hours per week may be included in the educational curriculum of each discipline.

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