Target Enrichment Approaches for Next-Generation Sequencing Applications in Oncology by Rajesh R. Singh

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P576: Recalibration of scoring metrics to assess the pathogenicity of constitutional copy number variants (CNVs)* by Emily Spector, Erica Andersen, John Herriges, Anne Higgins, Brynn Levy, Ludmila Matyakhina, Christa Martin, Daniel Pineda-Alvarez, Lina Shao, Shashirekha Shetty, Andrea Vaags, Erik Thorland, Sung-Hae Kang, Chelsea Lowther, Dominic McMullan, Erin Riggs

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Hypocomplementemic urticarial vasculitis not painful due to severe astennia. Case report by Walter Oqueli Vasquez-Bonilla, Heydi Rosibel Hernandez-Hernandez, Raúl Eduardo Trejo-Alvarez

“…Serum samples were sent to laboratories in the United States of America to complete immunological studies and a biopsy sample of dermatological lesion was sent to the Quest Diagnostics Incorporated Nichols Institute f-r immunohistochemistry, which reported low complement vasculitis with positive immunohistochemical staining to anti-C1q antigen. …”
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Seroprevalence and seroconversion of JC virus antibodies in a Mexican multiple sclerosis patients cohort by Brenda Bertado-Cortés, Anahí Castro, Daniel Rubio

“…Methods: The antibody index was determined using the STRATIFY JCV TM test, enzyme-linked immunosorbent assay (ELISA) in a reference laboratory, Quest Diagnostics Infectious Disease, Inc., California. …”
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Validation of the PyloPlus Urea Breath Test System in pediatric patients by Travis K. Price, Susan Realegeno, Kamran Azad, Kileen L. Shier

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P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* by Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

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A population health approach to workplace mental health: rationale, implementation and engagement by Kaylee T. Woodard, Allison M. Bailey, Aaron I. Esagoff, Maren S. Fragala, Joanna I. Hayward, Jennifer L. Hunter, Yea-Jen Hsu, Paul M. Kim, Matthew E. Peters, Susan M. Carr

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Bacille Calmette Guerin (BCG) and prevention of types 1 and 2 diabetes: Results of two observational studies. by Hans F Dias, Yoshihiko Mochizuki, Willem M Kühtreiber, Hiroyuki Takahashi, Hui Zheng, Denise L Faustman

“…<h4>Methods and findings</h4>We first analyzed three large US patient datasets (Optum Labs data [N = 45 million], Massachusetts General Brigham [N = 6.5 million], and Quest Diagnostics [N = 263 million adults]), by sorting out subjects with documented T1D (N = 19) or T2D (N = 106) undergoing BCG therapy for bladder cancer, and then by retrospectively assessing BCG's subsequent year-by-year impact on blood sugar trends. …”
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Service based logistics optimization by Price, Gregory D., Jr

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The relationship between insulin resistance and ion mobility lipoprotein fractions by Charles M. Rowland, Fahim Abbasi, Dov Shiffman, Joshua W. Knowles, Michael J. McPhaul

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Metabolic Mediators of the Effects of Family History and Genetic Risk Score on Coronary Heart Disease—Findings From the Malmö Diet and Cancer Study by Josef Fritz, Dov Shiffman, Olle Melander, Hayato Tada, Hanno Ulmer

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Association of Vitamin D3 Level with Breast Cancer Risk and Prognosis in African-American and Hispanic Women by Yanyuan Wu, Marianna Sarkissyan, Sheilah Clayton, Rowan Chlebowski, Jaydutt V. Vadgama

“…The serum 25-hydroxyvitamin D (25(OH)D3) was measured at a Quest-Diagnostics facility. Results: The results showed that 69.2% of African-Americans and 37.8% of Hispanics had 25(OH)D3 levels below 20 ng/mL. …”
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Analysis and implementation of laboratory automation system by Secundo, Rafael Garcia

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Identification of novel CYP2D7-2D6 hybrids: non-functional and functional variants by Andrea Gaedigk, Lazara K M Jaime, Joseph S Bertino, Jr, Anick Bérard, Victoria Pratt, L D Bradford, J S Leeder

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Performance of body mass index and percentage of body fat in predicting cardiometabolic risk factors in Thai adults by Vanavanan S, Srisawasdi P, Rochanawutanon M, Kumproa N, Kruthkul K, Kroll MH

“…Somlak Vanavanan,1 Pornpen Srisawasdi,1 Mana Rochanawutanon,2 Nalinee Kumproa,1 Khanat Kruthkul,3 Martin H Kroll4 1Division of Clinical Chemistry, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 2National Healthcare Systems, Bangkok, Thailand; 3Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 4Quest Diagnostics, Madison, NJ, USA Background: Body mass index (BMI) and percentage of body fat (PBF) are used to measure obesity; however, their performance in identifying cardiometabolic risk in Southeast Asians is unclear. …”
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Analysis of a diagnostics firm's pre-analytical processes by Thomas, Kevin M. (Kevin Michael)

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Reducing reagent waste through process improvement and preventive maintenance by Gobel, Amy Rose

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Immune and behavioral correlates of protection against symptomatic post-vaccination SARS-CoV-2 infection by Emilie Goguet, Emilie Goguet, Cara H. Olsen, William A. Meyer, Sara Ansari, John H. Powers, Tonia L. Conner, Si’Ana A. Coggins, Si’Ana A. Coggins, Wei Wang, Richard Wang, Luca Illinik, Luca Illinik, Margaret Sanchez Edwards, Margaret Sanchez Edwards, Belinda M. Jackson-Thompson, Belinda M. Jackson-Thompson, Monique Hollis-Perry, Gregory Wang, Gregory Wang, Yolanda Alcorta, Yolanda Alcorta, Mimi A. Wong, Mimi A. Wong, David Saunders, Roshila Mohammed, Roshila Mohammed, Bolatito Balogun, Bolatito Balogun, Priscilla Kobi, Priscilla Kobi, Lakeesha Kosh, Lakeesha Kosh, Kimberly Bishop-Lilly, Regina Z. Cer, Catherine E. Arnold, Catherine E. Arnold, Logan J. Voegtly, Logan J. Voegtly, Maren Fitzpatrick, Maren Fitzpatrick, Andrea E. Luquette, Andrea E. Luquette, Francisco Malagon, Francisco Malagon, Orlando Ortega, Orlando Ortega, Edward Parmelee, Edward Parmelee, Julian Davies, Julian Davies, Alyssa R. Lindrose, Alyssa R. Lindrose, Hannah Haines-Hull, Hannah Haines-Hull, Matthew S. Moser, Matthew S. Moser, Emily C. Samuels, Emily C. Samuels, Marana S. Rekedal, Marana S. Rekedal, Elizabeth K. Graydon, Elizabeth K. Graydon, Allison M. W. Malloy, David R. Tribble, Timothy H. Burgess, Wesley Campbell, Sara Robinson, Christopher C. Broder, Robert J. O’Connell, Carol D. Weiss, Simon Pollett, Simon Pollett, Eric D. Laing, Edward Mitre

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The genetic landscape of autism spectrum disorder in the Middle Eastern population by Yasser Al-Sarraj, Yasser Al-Sarraj, Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Eman Al-Dous, Dina Ahram, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii‬, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Fouad Alshaban, Hatem El-Shanti, Hatem El-Shanti, Omar M. E. Albagha, Omar M. E. Albagha

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