scholarly journals Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians

2020 ◽  
Vol 29 (13) ◽  
pp. 2275-2284
Author(s):  
Meng Lin ◽  
Christian Caberto ◽  
Peggy Wan ◽  
Yuqing Li ◽  
Annette Lum-Jones ◽  
...  
Keyword(s):  
Cost Effective ◽  
Native Hawaiians ◽  
Specific Reference ◽  
Underrepresented Populations ◽  
Genome Wide ◽  
Cost Effective Approach ◽  
Sequencing Studies ◽  
Study Population ◽  
Alternative Approaches ◽  
Increase Sample Size

Abstract Statistical imputation applied to genome-wide array data is the most cost-effective approach to complete the catalog of genetic variation in a study population. However, imputed genotypes in underrepresented populations incur greater inaccuracies due to ascertainment bias and a lack of representation among reference individuals, further contributing to the obstacles to study these populations. Here we examined the consequences due to the lack of representation by genotyping in a large number of self-reported Native Hawaiians (N = 3693) a functionally important, Polynesian-specific variant in the CREBRF gene, rs373863828. We found the derived allele was significantly associated with several adiposity traits with large effects (e.g. ~ 1.28 kg/m2 per allele in body mass index as the most significant; P = 7.5 × 10−5), consistent with the original findings in Samoans. Due to the current absence of Polynesian representation in publicly accessible reference sequences, rs373863828 or its proxies could not be tested through imputation using these existing resources. Moreover, the association signals at the entire CREBRF locus could not be captured by alternative approaches, such as admixture mapping. In contrast, highly accurate imputation can be achieved even if a small number (<200) of internally constructed Polynesian reference individuals were available; this would increase sample size and improve the statistical evidence of associations. Taken together, our results suggest the alarming possibility that lack of representation in reference panels could inhibit discovery of functionally important loci such as CREBRF. Yet, they could be easily detected and prioritized with improved representation of diverse populations in sequencing studies.

scholarly journals Population specific reference panels are crucial for the genetic analyses of Native Hawai’ians: an example of the CREBRF locus

2019 ◽  
Author(s):  
Meng Lin ◽  
Christian Caberto ◽  
Peggy Wan ◽  
Yuqing Li ◽  
Annette Lum-Jones ◽  
...  
Keyword(s):  
Cost Effective ◽  
Specific Reference ◽  
Hip Circumference ◽  
Genome Wide ◽  
Cost Effective Approach ◽  
Multiethnic Cohort ◽  
Sequencing Studies ◽  
Study Population ◽  
Alternative Approaches ◽  
Internal Set

AbstractStatistical imputation applied to genome-wide array data is the most cost-effective approach to complete the catalog of genetic variation in a study population. However, imputed genotypes in underrepresented populations incur greater inaccuracies due to ascertainment bias and a lack of representation among reference individuals,, further contributing to the obstacles to study these populations. Here we examined the consequences due to the lack of representation by genotyping a functionally important, Polynesian-specific variant, rs373863828, in the CREBRF gene, in a large number of self-reported Native Hawai’ians (N=3,693) from the Multiethnic Cohort. We found the derived allele of rs373863828 was significantly associated with several adiposity traits with large effects (e.g. 0.214 s.d., or approximately 1.28 kg/m2, per allele, in BMI as the most significant; P = 7.5×10−5). Due to the current absence of Polynesian representation in publicly accessible reference sequences, rs373863828 or any of its proxies could not be tested through imputation using these existing resources. Moreover, the association signals at this Polynesian-specific variant could not be captured by alternative approaches, such as admixture mapping. In contrast, highly accurate imputation can be achieved even if a small number (<200) of Polynesian reference individuals were available. By constructing an internal set of Polynesian reference individuals, we were able to increase sample size for analysis up to 3,936 individuals, and improved the statistical evidence of association (e.g. p = 1.5×10−7, 3×10−6, and 1.4×10−4 for BMI, hip circumference, and T2D, respectively). Taken together, our results suggest the alarming possibility that lack of representation in reference panels would inhibit discovery of functionally important, population-specific loci such as CREBRF. Yet, they could be easily detected and prioritized with improved representation of diverse populations in sequencing studies.

scholarly journals Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Fiona Allum ◽  
◽  
Xiaojian Shao ◽  
Frédéric Guénard ◽  
Marie-Michelle Simon ◽  
...  
Keyword(s):  
Large Scale ◽  
Hdl Cholesterol ◽  
Cost Effective ◽  
Strongly Correlated ◽  
Genome Wide ◽  
Cost Effective Approach ◽  
Genome Bisulfite Sequencing ◽  
Comparable Accuracy ◽  
Capture Sequencing

Abstract Most genome-wide methylation studies (EWAS) of multifactorial disease traits use targeted arrays or enrichment methodologies preferentially covering CpG-dense regions, to characterize sufficiently large samples. To overcome this limitation, we present here a new customizable, cost-effective approach, methylC-capture sequencing (MCC-Seq), for sequencing functional methylomes, while simultaneously providing genetic variation information. To illustrate MCC-Seq, we use whole-genome bisulfite sequencing on adipose tissue (AT) samples and public databases to design AT-specific panels. We establish its efficiency for high-density interrogation of methylome variability by systematic comparisons with other approaches and demonstrate its applicability by identifying novel methylation variation within enhancers strongly correlated to plasma triglyceride and HDL-cholesterol, including at CD36. Our more comprehensive AT panel assesses tissue methylation and genotypes in parallel at ∼4 and ∼3 M sites, respectively. Our study demonstrates that MCC-Seq provides comparable accuracy to alternative approaches but enables more efficient cataloguing of functional and disease-relevant epigenetic and genetic variants for large-scale EWAS.

E-Insurance :A Platform For Insurance Penetration In India

2019 ◽  
Vol 118 (6) ◽  
pp. 90-93
Author(s):  
L. Terina Grazy ◽  
Dr.G. Parimalarani
Keyword(s):  
Insurance Industry ◽  
Cost Effective ◽  
Online Marketing ◽  
Insurance Companies ◽  
The Internet ◽  
Insurance Sector ◽  
The People ◽  
Cost Effective Approach ◽  
Time And Energy ◽  
Work Done

E-commerce is a part of Internet Marketing. The arrival of Internet made the world very simple and dynamic in all the areas. Internet is the growing business as a result most of the people are using it in their day to day life. E-commerce is attractive and efficient way for both buyers and sellesr as it reduce cost, time and energy for the buyer. No surprise the insurance sector has become quite active within the internet sphere. Most insurance companies are offering policies to be brought online and also the portals for paying premiums. It actually saves from hassles involved in going to an insurance office and spend hours to get the insurance work done. Insurance has become an important and crucial aspect of life. Online insurance is the best and most cost effective approach of taking the insurance deal. This paper focused on influence of online marketing on the insurance industry in India, usage of internet in India , the internet penetration in India and the online sale of insurance product by the insurance sector.

Conclusion

2018 ◽  
Author(s):  
Yana van der Meulen Rodgers
Keyword(s):  
Family Planning ◽  
Reproductive Health ◽  
Health Services ◽  
Health Outcomes ◽  
Cost Effective ◽  
Reproductive Health Services ◽  
Cost Effective Approach ◽  
Restrictive Legislation

Chapter 7 concludes by highlighting the three biggest messages from the analysis presented in this book: (1) the global gag rule has failed to achieve its goal of reducing abortions; (2) restrictive legislation is associated with more unsafe abortions; and (3) the expanded global gag rule is likely to have negative repercussions across a range of health outcomes for women, children, and men. They are simple but powerful messages that should be heard by policymakers over the voices calling for an ideologically based policy that fails to achieve its desired outcome. The chapter closes with a more constructive and cost-effective approach for US family-planning assistance that targets integrated reproductive health services.

scholarly journals The Inverse Spacer—A Novel, Safe, and Cost-Effective Approach in Routine Procedures for Revision Knee Arthroplasty

2021 ◽  
Vol 10 (5) ◽  
pp. 971
Author(s):  
Kristoff Hammerich ◽  
Jens Pollack ◽  
Alexander F. Hasse ◽  
André El Saman ◽  
René Huber ◽  
...  
Keyword(s):  
Knee Arthroplasty ◽  
Clinical Success ◽  
Cost Effective ◽  
Revision Total Knee Arthroplasty ◽  
Rotational Stability ◽  
X Rays ◽  
Free Interval ◽  
Major Disadvantage ◽  
Cost Effective Approach ◽  
Before And After

Background: A major disadvantage of current spacers for two-stage revision total knee arthroplasty (R-TKA) is the risk of (sub-) luxation during mobilization in the prosthesis-free interval, limiting their clinical success with detrimental consequences for the patient. The present study introduces a novel inverse spacer, which prevents major complications, such as spacer (sub-) luxations and/or fractures of spacer or bone. Methods: The hand-made inverse spacer consisted of convex tibial and concave femoral components of polymethylmethacrylate bone cement and was intra-operatively molded under maximum longitudinal tension in 5° flexion and 5° valgus position. Both components were equipped with a stem for rotational stability. This spacer was implanted during an R-TKA in 110 knees with diagnosed or suspected periprosthetic infection. Postoperative therapy included a straight leg brace and physiotherapist-guided, crutch-supported mobilization with full sole contact. X-rays were taken before and after prosthesis removal and re-implantation. Results: None of the patients experienced (sub-) luxations/fractures of the spacer, periprosthetic fractures, or soft tissue compromise requiring reoperation. All patients were successfully re-implanted after a prosthesis-free interval of 8 weeks, except for three patients requiring an early exchange of the spacer due to persisting infection. In these cases, the prosthetic-free interval was prolonged for one week. Conclusion: The inverse spacer in conjunction with our routine procedure is a safe and cost-effective alternative to other articulating or static spacers, and allows crutch-supported sole contact mobilization without major post-operative complications. Maximum longitudinal intra-operative tension in 5° flexion and 5° valgus position appears crucial for the success of surgery.

scholarly journals Overexpression of OsABCG48 Lowers Cadmium in Rice (Oryza sativa L.)

Agronomy ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 918
Author(s):  
Xingzhe Cai ◽  
Meng Wang ◽  
Yucong Jiang ◽  
Changhu Wang ◽  
David W. Ow
Keyword(s):  
Oryza Sativa L ◽  
Cost Effective ◽  
Health Issues ◽  
Rna Seq ◽  
Wild Type ◽  
Genetic Changes ◽  
Cd Accumulation ◽  
Lateral Root Development ◽  
Atp Binding Cassette Transporter ◽  
Cost Effective Approach

Cadmium pollution threatens food safety and security by causing health issues and reducing farmland availability. Engineering genetic changes in crop plants to lower Cd accumulation can be a cost-effective approach to address this problem. Previously, we reported that a rice line, 2B, which expresses a truncated version of OsO3L2 had reduced Cd accumulation throughout the plant, including in seed. However, downstream events caused by expression of this gene were not known. In this study, RNA-seq was used to identify differentially expressed genes between the wild type and 2B rice with or without Cd treatment, leading to the study of an ABC transporter gene, OsABCG48 (ATP-Binding Cassette transporter G family member 48). Heterologous expression of OsABCG48 conferred tolerance to Cd in Schizosaccharomyces pombe, Arabidopsis and rice. Moreover, overexpressing OsABCG48 in rice lowered root Cd accumulation that was associated with more extensive lateral root development. These data suggest that OsABCG48 might have applications for engineering low-Cd rice.

scholarly journals 3D Printed Imaging Platform for Portable Cell Counting

The Analyst ◽  
2021 ◽  
Author(s):  
Diwakar M. Awate ◽  
Cicero C. Pola ◽  
Erica Shumaker ◽  
Carmen L Gomes ◽  
Jaime Javier Juarez
Keyword(s):  
3D Printing ◽  
Point Of Care ◽  
Cost Effective ◽  
Cell Counting ◽  
Biomedical Sciences ◽  
Widespread Application ◽  
Resource Limited ◽  
Cost Effective Approach ◽  
3D Printed

Despite having widespread application in the biomedical sciences, flow cytometers have several limitations that prevent their application to point-of-care (POC) diagnostics in resource-limited environments. 3D printing provides a cost-effective approach...

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