scholarly journals A Mutagenic Primer Assay for Genotyping of theCRHR1Gene Rare Variant rs1876828 (A/G) in Asians: A Cost-Effective SNP Typing

2014 ◽  
Vol 30 (2) ◽  
pp. 169-174
Author(s):  
Neeraj Sharma ◽  
Shally Awasthi ◽  
Shubha R Phadke
Keyword(s):  
Rare Variant ◽  
Cost Effective ◽  
Mutagenic Primer ◽  
Snp Typing

scholarly journals Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

2014 ◽  
Vol 23 (7) ◽  
pp. 975-983 ◽  
Author(s):  
Giorgio Pistis ◽  
Eleonora Porcu ◽  
Scott I Vrieze ◽  
Carlo Sidore ◽  
Maristella Steri ◽  
...  
Keyword(s):  
Rare Variant ◽  
Cost Effective ◽  
Genotype Imputation ◽  
Whole Genome ◽  
Genome Sequences ◽  
Variant Genotype ◽  
Study Designs

CoCoRV: a rare variant analysis framework using publicly available genotype summary counts to prioritize germline disease-predisposition genes

2021 ◽  
Author(s):  
Wenan Chen ◽  
Shuoguo Wang ◽  
Saima Sultana Tithi ◽  
David Ellison ◽  
Gang Wu
Keyword(s):  
Rare Variant ◽  
Rare Variants ◽  
Disease Risk ◽  
Cost Effective ◽  
Adult Brain ◽  
Accurate Estimation ◽  
Confounding Factors ◽  
Public Data ◽  
Predisposition Genes ◽  
Disease Predisposition

Sequencing cases without matched healthy controls hinders prioritization of germline disease-predisposition genes. To circumvent this problem, genotype summary counts from public data sets can serve as controls. However, systematic inflation and false positives can arise if confounding factors are not addressed. We propose a new framework, consistent summary counts based rare variant burden test (CoCoRV), to address these challenges. CoCoRV has consistent variant quality control and filtering, ethnicity-stratified rare variant association test, accurate estimation of inflation factors, powerful FDR control, and can detect rare variants in high linkage disequilibrium. When we applied CoCoRV to pediatric cancer cohorts, the top genes identified were cancer-predisposition genes. We also applied CoCoRV to identify disease-predisposition genes in adult brain tumors and amyotrophic lateral sclerosis. Given that potential confounding factors were well controlled after applying the framework, CoCoRV provides a cost-effective solution to prioritizing disease-risk genes enriched with rare pathogenic variants.

The application of electron microscopy to diagnosis in gynecologic neoplasms and tumor-like conditions

1984 ◽  
Vol 42 ◽  
pp. 102-105
Author(s):  
Lawrence M. Roth
Keyword(s):  
Electron Microscopy ◽  
Reproductive Tract ◽  
Malignant Tumors ◽  
Frozen Section ◽  
Cost Effective ◽  
Female Reproductive Tract ◽  
Ultrastructural Examination ◽  
Specific Diagnosis ◽  
Potential Value ◽  
Gynecologic Neoplasms

The female reproductive tract may be the site of a wide variety of benign and malignant tumors, as well as non-neoplastic tumor-like conditions, most of which can be diagnosed by light microscopic examination including special stains and more recently immunoperoxidase techniques. Nevertheless there are situations where ultrastructural examination can contribute substantially to an accurate and specific diagnosis. It is my opinion that electron microscopy can be of greatest benefit and is most cost effective when applied in conjunction with other methodologies. Thus, I have developed an approach which has proved useful for me and may have benefit for others. In cases where it is deemed of potential value, glutaraldehyde-fixed material is obtained at the time of frozen section or otherwise at operation. Coordination with the gynecologic oncologist is required in the latter situation. This material is processed and blocked and is available if a future need arises.

The IBM-PC in electron microscopy

1996 ◽  
Vol 54 ◽  
pp. 612-613
Author(s):  
James F. Mancuso
Keyword(s):  
Head Start ◽  
Image Acquisition ◽  
Cost Effective ◽  
Financial Applications ◽  
Number Of Factors ◽  
Instrument Control ◽  
The Cost ◽  
Training And Support ◽  
Control Image ◽  
Ibm Pc

IBM PC compatible computers are widely used in microscopy for applications ranging from control to image acquisition and analysis. The choice of IBM-PC based systems over competing computer platforms can be based on technical merit alone or on a number of factors relating to economics, availability of peripherals, management dictum, or simple personal preference.IBM-PC got a strong “head start” by first dominating clerical, document processing and financial applications. The use of these computers spilled into the laboratory where the DOS based IBM-PC replaced mini-computers. Compared to minicomputer, the PC provided a more for cost-effective platform for applications in numerical analysis, engineering and design, instrument control, image acquisition and image processing. In addition, the sitewide use of a common PC platform could reduce the cost of training and support services relative to cases where many different computer platforms were used. This could be especially true for the microscopists who must use computers in both the laboratory and the office.

A Review of 21 iPad Applications for Augmentative and Alternative Communication Purposes

2012 ◽  
Vol 21 (2) ◽  
pp. 60-71 ◽  
Author(s):  
Ashley Alliano ◽  
Kimberly Herriger ◽  
Anthony D. Koutsoftas ◽  
Theresa E. Bartolotta
Keyword(s):  
Augmentative And Alternative Communication ◽  
Cost Effective ◽  
Alternative Form ◽  
Alternative Communication ◽  
Text To Speech ◽  
Reference Guide ◽  
Expressive Communication ◽  
Communication Needs ◽  
User Friendly ◽  
Ipad Applications

Abstract Using the iPad tablet for Augmentative and Alternative Communication (AAC) purposes can facilitate many communicative needs, is cost-effective, and is socially acceptable. Many individuals with communication difficulties can use iPad applications (apps) to augment communication, provide an alternative form of communication, or target receptive and expressive language goals. In this paper, we will review a collection of iPad apps that can be used to address a variety of receptive and expressive communication needs. Based on recommendations from Gosnell, Costello, and Shane (2011), we describe the features of 21 apps that can serve as a reference guide for speech-language pathologists. We systematically identified 21 apps that use symbols only, symbols and text-to-speech, and text-to-speech only. We provide descriptions of the purpose of each app, along with the following feature descriptions: speech settings, representation, display, feedback features, rate enhancement, access, motor competencies, and cost. In this review, we describe these apps and how individuals with complex communication needs can use them for a variety of communication purposes and to target a variety of treatment goals. We present information in a user-friendly table format that clinicians can use as a reference guide.

Teletinnitus Program at the VA Gulf Coast Veterans Health Care System

2014 ◽  
Vol 4 (1) ◽  
pp. 23-29
Author(s):  
Constance Hilory Tomberlin
Keyword(s):  
Health Care ◽  
Patient Satisfaction ◽  
Patient Care ◽  
Health Care System ◽  
Gulf Coast ◽  
New Technology ◽  
Cost Effective ◽  
Veterans Health ◽  
Potential Benefits ◽  
Care System

There are a multitude of reasons that a teletinnitus program can be beneficial, not only to the patients, but also within the hospital and audiology department. The ability to use technology for the purpose of tinnitus management allows for improved appointment access for all patients, especially those who live at a distance, has been shown to be more cost effective when the patients travel is otherwise monetarily compensated, and allows for multiple patient's to be seen in the same time slots, allowing for greater access to the clinic for the patients wishing to be seen in-house. There is also the patient's excitement in being part of a new technology-based program. The Gulf Coast Veterans Health Care System (GCVHCS) saw the potential benefits of incorporating a teletinnitus program and began implementation in 2013. There were a few hurdles to work through during the beginning organizational process and the initial execution of the program. Since the establishment of the Teletinnitus program, the GCVHCS has seen an enhancement in patient care, reduction in travel compensation, improvement in clinic utilization, clinic availability, the genuine excitement of the use of a new healthcare media amongst staff and patients, and overall patient satisfaction.

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