Publications by authors named "P K Qasba"
Microfluidic lab-on-a-chip technologies enable the analysis and manipulation of small fluid volumes and particles at small scales and the control of fluid flow and transport processes at the microscale, leading to the development of new methods to address a broad range of scientific and medical challenges. Microfluidic and lab-on-a-chip technologies have made a noteworthy impact in basic, preclinical, and clinical research, especially in hematology and vascular biology due to the inherent ability of microfluidics to mimic physiologic flow conditions in blood vessels and capillaries. With the potential to significantly impact translational research and clinical diagnostics, technical issues and incentive mismatches have stymied microfluidics from fulfilling this promise.
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- Identifying impactful rare genetic variants is difficult, but using personal multi-omics can help overcome this challenge, as shown in a study involving several hundred individuals over 10 years.
- By analyzing whole-genome sequencing and other omics data, researchers found that combining expression and protein data significantly increased the detection of rare stop and frameshift variants.
- A new Bayesian hierarchical model called "Watershed" was used to prioritize rare variants linked to significant traits, revealing variants that influence complex conditions like height, schizophrenia, and Alzheimer's disease.
Article Synopsis
- The Trans-Omics for Precision Medicine (TOPMed) programme aims to understand the genetic factors behind heart, lung, blood, and sleep disorders to enhance their diagnosis, treatment, and prevention.
- TOPMed uses whole-genome sequencing from diverse individuals, revealing over 400 million genetic variants, many of which are rare and offer insights into human evolution and disease mechanisms.
- The programme provides tools like a variant browser and access to genomic data, improving the capability of genome-wide association studies to include rare variants that could have significant health implications.
Leveraging emerging opportunities in data science to open new frontiers in heart, lung, blood, and sleep research is one of the major strategic objectives of the National Heart, Lung, and Blood Institute (NHLBI), one of the 27 Institutes/Centers within the National Institutes of Health (NIH). To assess NHLBI's recent funding of research grants in data science and to identify its relative areas of focus within data science, a portfolio analysis from fiscal year 2008 to fiscal year 2017 was performed. In this portfolio analysis, an efficient and reliable methodology was used to identify data science research grants by utilizing several NIH databases and search technologies (iSearch, Query View Reporting system, and IN-SPIRE [Pacific Northwest National Laboratory, Richland, WA]).
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