Article
Computer Science, Information Systems
Chris Grasso, Hilary Goldhammer, Julie Thompson, Alex S. Keuroghlian
Summary: Recent advancements in electronic health records and health information technology offer new opportunities to enhance care quality for transgender and gender diverse individuals. The article recommends changes to EHR systems, such as creating an anatomical inventory form and developing clinical decision support tools, to provide gender-affirming care tailored to each patient's unique needs.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Yang Chen, Steve Harris, Yvonne Rogers, Tariq Ahmad, Folkert W. Asselbergs
Summary: We believe that the use of nudge theory as part of clinical decision support systems can help reduce the evidence-practice gap in healthcare. By testing nudges on all stakeholders, they can improve the implementation of known evidence and generate new insights in areas without a robust evidence base.
EUROPEAN HEART JOURNAL
(2022)
Article
Health Care Sciences & Services
Prateek J. Shukla, Piper Sandel, Gurpreet Phull, Janine A. Rethy
Summary: This study aims to improve precision in asthma severity classification in the community healthcare setting through the development of an electronic asthma decision support tool. The launch of the tool in three academic community clinics resulted in a significant improvement in precision of asthma severity classification.
JOURNAL OF MEDICAL SYSTEMS
(2022)
Article
Genetics & Heredity
Antonela Blazekovic, Kristina Gotovac Jercic, Sarah Meglaj, Vlasta Duranovic, Igor Prpic, Bernarda Lozic, Masa Malenica, Silvana Markovic, Lucija Lujic, Zeljka Petelin Gadze, Romana Gjergja Juraski, Nina Barisic, Ivo Baric, Fran Borovecki
Summary: This study evaluates the impact of genetic testing and investigates the diagnostic utility of targeted gene panel sequencing in epilepsy patients. The findings show that this testing method can increase diagnostic accuracy and identify previously undescribed variants. Patients with developmental delay had a higher diagnostic yield. Additionally, early genomic diagnosis is important for treatment and avoiding unnecessary procedures in children with epilepsy.
Article
Oncology
Tyler Shugg, Reynold C. Ly, Wilberforce Osei, Elizabeth J. Rowe, Caitlin A. Granfield, Ty C. Lynnes, Elizabeth B. Medeiros, Jennelle C. Hodge, Amy M. Breman, Bryan P. Schneider, S. Cenk Sahinalp, Ibrahim Numanagic, Benjamin A. Salisbury, Steven M. Bray, Ryan Ratcliff, Todd C. Skaar
Summary: This study assessed the accuracy of the Aldy computational method in extracting pharmacogenomics genotypes from whole genome sequencing (WGS) and whole exome sequencing (WES) data. The results showed that Aldy achieved over 99% accuracy in calling diplotypes for major pharmacogenes from both WGS and WES data, supporting its importance in clinical applications.
FRONTIERS IN ONCOLOGY
(2023)
Article
Computer Science, Information Systems
Thomas McGinn, David A. Feldstein, Isabel Barata, Emily Heineman, Joshua Ross, Dana Kaplan, Safiya Richardson, Barbara Knox, Amanda Palm, Francesca Bullaro, Nicholas Kuehnel, Linda Park, Sundas Khan, Benjamin Eithun, Rachel P. Berger
Summary: The study aimed to develop a child abuse clinical decision support system (CA-CDSS) in two different electronic health record systems. By adapting the CA-CDSS for use in hospitals using Allscripts and Epic, the research found variations in triggers, alerts, and order sets specific to child abuse.
INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS
(2021)
Review
Biology
Martin Chapman, Shahzad Mumtaz, Luke Rasmussen, Andreas Karwath, Georgios Gkoutos, Chuang Gao, Dan Thayer, Jennifer A. Pacheco, Helen Parkinson, Rachel L. Richesson, Emily Jefferson, Spiros Denaxas, Vasa Curcin
Summary: This study presents a set of desiderata for the design of a next-generation phenotype library that aims to ensure the quality of hosted definitions by combining functionality currently offered by disparate tooling. Researchers examined phenotype models, implementation, validation, and contemporary phenotype libraries, resulting in 14 library desiderata that promote high-quality phenotype definitions.
Review
Medical Laboratory Technology
Deepali Yadav, Bhagyashri Patil-Takbhate, Anil Khandagale, Jitendra Bhawalkar, Srikanth Tripathy, Priyanka Khopkar-Kale
Summary: Next-generation sequencing (NGS) has revolutionized genomics and is dramatically changing clinical diagnosis and precision medicine. NGS enables rapid and cost-effective analysis of large-scale genomic data, facilitating comprehensive exploration of disease genetic landscape. It is a powerful tool for disease diagnosis, prognosis, and personalized treatment strategies, allowing accurate identification of disease-causing variants and discovery of novel disease-associated genes and variants. NGS enhances our understanding of disease mechanisms and enables tailored medical interventions based on individual characteristics, contributing to the development of noninvasive diagnostic approaches.
CLINICA CHIMICA ACTA
(2023)
Article
Pharmacology & Pharmacy
Samuel D. Chorlton, Gordon Ritchie, Tanya Lawson, Elizabeth McLachlan, Marc G. Romney, Nancy Matic, Christopher F. Lowe
Summary: A next-generation sequencing (NGS) assay was developed for CMV antiviral drug resistance (AVDR) testing, which using MinION technology detected additional mutations compared to traditional Sanger sequencing. Through the application of an online bioinformatics pipeline, barriers associated with MinION and NGS in clinical laboratories were eliminated.
ANTIVIRAL RESEARCH
(2021)
Review
Pharmacology & Pharmacy
Alireza Tafazoli, Henk-Jan Guchelaar, Wojciech Miltyk, Adam J. Kretowski, Jesse J. Swen
Summary: Pharmacogenomics (PGx) utilizes genetic data to optimize drug therapy, with next-generation sequencing (NGS) emerging as a more comprehensive and cost-effective approach. The advantages and challenges of implementing NGS-based tests in PGx are discussed, along with solutions for managing these technologies in clinical practice.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Immunology
Ying Liu, Huifen Wang, Yaoguang Li, Zujiang Yu
Summary: The study aimed to evaluate the clinical diagnostic value of metagenomic next-generation sequencing (mNGS) for tuberculosis (TB). Retrospective analysis of 52 patients with suspected TB infection was conducted, and multiple detection methods were performed. The results showed that mNGS had a higher detection rate of MTB compared to acid-fast staining and PCR, but no statistical difference with T-SPOT.TB assay. As an adjunctive diagnostic technology, mNGS can be combined with traditional methods to guide the diagnosis and treatment of TB.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Tycho R. Tromp, Joep C. Defesche, Aldo Grefhorst, Erik S. G. Stroes, G. Kees Hovingh, Linda Zuurbier
Summary: In the Netherlands, 14.9% of suspected familial hypercholesterolemia patients were found to have a pathogenic variant in LDLR, APOB or PCSK9, and this rate has decreased over the past two decades. The use of stringent clinical criteria algorithms is recommended to increase the yield of genetic testing. Variants in minor familial hypercholesterolemia genes may explain the phenotype in a small percentage of patients.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Chemistry, Multidisciplinary
Na Zhao, Jiabao Cao, Jiayue Xu, Beibei Liu, Bin Liu, Dingqiang Chen, Binbin Xia, Liang Chen, Wenhui Zhang, Yuqing Zhang, Xuan Zhang, Zhimei Duan, Kaifei Wang, Fei Xie, Kun Xiao, Wei Yan, Lixin Xie, Hongwei Zhou, Jun Wang
Summary: Utilizing RNA sequencing and third-generation sequencing technology for pathogen identification can improve the ratio of microbial reads and accelerate clinical diagnosis, showing significant potential.
Article
Oncology
Vijaya Kadam Maruthi, Mahyar Khazaeli, Devi Jeyachandran, Mohamed Mokhtar Desouki
Summary: Targeted therapy based on test results has high clinical utility and can improve survival for gynecologic cancer patients.
Article
Virology
Calesta Hui Yi Teo, Nurul Hannah Binte Norhisham, Ogestelli Fabia Lee, Siyu Png, Chean Nee Chai, Gabriel Yan, Julian Wei-Tze Tang, Chun Kiat Lee
Summary: The HIV genotypic resistance test is crucial for managing HIV/AIDS patients, and high-throughput sequencing is a reliable and sensitive alternative method for detecting low-abundance covert mutations and drug resistance.
Article
Genetics & Heredity
Steven M. Harrison, Christina A. Austin-Tse, Serra Kim, Matthew Lebo, Annette Leon, David Murdock, Aparna Radhakrishnan, Brian H. Shirts, Marcie Steeves, Eric Venner, Richard A. Gibbs, Gail P. Jarvik, Heidi L. Rehm
Summary: The All of Us Research Program aims to accelerate research and improve healthcare by collecting data from one million people in the United States. Participants can choose to receive genome analysis results, including actionable findings for certain gene-disorder pairs. Four participating clinical laboratories conducted a prelaunch study to ensure consistent reporting of variant classifications, with 99.1% concordance and resolution of all reportability differences through reassessment and discussion. This approach will be maintained for continuous classification harmonization and consistent reporting within the program.
Article
Pathology
Barbara J. Klanderman, Christopher Koch, Kalotina Machini, Shruti S. Parpattedar, Shruthi Bandyadka, Chiao-Feng Lin, Elizabeth Hynes, Matthew S. Lebo, Sami S. Amr
Summary: Clinical laboratories offering genome sequencing can provide pharmacogenomic findings to patients, which can help inform medication selection and dosing throughout the lifespan. The lmPGX pipeline offers a solution for seamlessly integrating pharmacogenomic results with genome reporting, addressing various challenges in reporting.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2022)
Article
Biochemistry & Molecular Biology
Limin Hao, Peter Kraft, Gabriel F. Berriz, Elizabeth D. Hynes, Christopher Koch, Prathik Kumar, Shruti S. Parpattedar, Marcie Steeves, Wanfeng Yu, Ashley A. Antwi, Charles A. Brunette, Morgan Danowski, Manish K. Gala, Robert C. Green, Natalie E. Jones, Anna C. F. Lewis, Steven A. Lubitz, Pradeep Natarajan, Jason L. Vassy, Matthew S. Lebo
Summary: The first report from the GenoVA Study provides insights into the development of a clinical polygenic risk score assay and discusses the challenges of implementing and reporting the results. The study developed a clinical genotype array-based assay for multiple conditions and analyzed prospective samples to determine the frequency of high-risk polygenic risk scores. The research highlights the importance of developing resources and workflows for using polygenic risk score information in patient care.
Article
Multidisciplinary Sciences
Felix Dietlein, Alex B. Wang, Christian Fagre, Anran Tang, Nicolle J. M. Besselink, Edwin Cuppen, Chunliang Li, Shamil R. Sunyaev, James T. Neal, Eliezer M. Van Allen
Summary: We established a comprehensive map of somatic mutation events in the whole cancer genomes, representing 19 tumor types. We found that protein-coding events and noncoding events play different roles in tumors, and noncoding events may be potential drivers. We also discovered that XBP1 mutations primarily accumulate outside the gene's promoter and impact gene expression.
Article
Cardiac & Cardiovascular Systems
Aniruddh P. Patel, Jacqueline S. Dron, Minxian Wang, James P. Pirruccello, Kenney Ng, Pradeep Natarajan, Matthew Lebo, Patrick T. Ellinor, Krishna G. Aragam, Amit Khera
Summary: A genetic association study found that approximately 0.7% of participants carried pathogenic variants associated with inherited cardiomyopathy. These carriers are difficult to identify through imaging in clinical practice, but they have an increased risk of cardiovascular disease and all-cause mortality.
Editorial Material
Oncology
Andrew Hantel, Dillon D. Clancy, Kenneth L. Kehl, Jonathan M. Marron, Eliezer M. Van Allen, Gregory A. Abel
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Genetics & Heredity
Tian Ge, Marguerite R. Irvin, Amit Patki, Vinodh Srinivasasainagendra, Yen-Feng Lin, Hemant K. Tiwari, Nicole D. Armstrong, Barbara Benoit, Chia-Yen Chen, Karmel W. Choi, James J. Cimino, Brittney H. Davis, Ozan Dikilitas, Bethany Etheridge, Yen-Chen Anne Feng, Vivian Gainer, Hailiang Huang, Gail P. Jarvik, Christopher Kachulis, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Leah Kottyan, Iftikhar J. Kullo, Christoph Lange, Niall Lennon, Aaron Leong, Edyta Malolepsza, Ayme D. Miles, Shawn Murphy, Bahram Namjou, Renuka Narayan, Mark J. O'Connor, Jennifer A. Pacheco, Emma Perez, Laura J. Rasmussen-Torvik, Elisabeth A. Rosenthal, Daniel Schaid, Maria Stamou, Miriam S. Udler, Wei-Qi Wei, Scott T. Weiss, Maggie C. Y. Ng, Jordan W. Smoller, Matthew S. Lebo, James B. Meigs, Nita A. Limdi, Elizabeth W. Karlson
Summary: This study developed and validated a trans-ancestry PRS using multiple populations' T2D GWAS data, demonstrating its potential as a risk index in clinical settings among diverse patients.
Article
Genetics & Heredity
Vineel Bhat, Ivan A. Adzhubei, James D. Fife, Matthew Lebo, Christopher A. Cassa
Summary: This study explores the potential of using evidence of pathogenicity from prior variant classifications in ClinVar to inform variant interpretation based on the ACMG/AMP clinical guidelines. The findings show that thousands of variants, including those in clinically actionable disease genes, have evidence of pathogenicity from existing variant classifications, accounting for 2.5% of nonsynonymous SNVs in ClinVar. These variants with evidence of pathogenicity have similar computational predictions and splicing effects as their associated pathogenic variants.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Anna C. F. Lewis, Emma F. Perez, Anya E. R. Prince, Hana R. Flaxman, Lizbeth Gomez, Deanna G. Brockman, Paulette D. Chandler, Benjamin J. Kerman, Matthew S. Lebo, Jordan W. Smoller, Scott T. Weiss, Carrie L. Blout Zawatksy, James B. Meigs, Robert C. Green, Jason L. Vassy, Elizabeth W. Karlson
Summary: This study investigates the responses of patients and primary care providers (PCPs) to different designs of polygenic risk scores (PRS) clinical reports. The findings suggest that both patients and PCPs prefer the continuous representation of PRS and offer recommendations for report design. PCPs see PRS information as a natural extension of their current practice, but the lack of evidence for clinical utility is a major challenge for PRS implementation.
Article
Health Care Sciences & Services
Natalie T. Boutin, Samantha B. Schecter, Emma F. Perez, Natasha S. Tchamitchian, Xander R. Cerretani, Vivian S. Gainer, Matthew S. Lebo, Lisa M. Mahanta, Elizabeth W. Karlson, Jordan W. Smoller
Summary: The Mass General Brigham Biobank is a large repository of biospecimens and data aimed at supporting translational research on disease phenotypes. It has enrolled over 135,000 participants, generated genomic data on more than 65,000 participants, and served numerous institutional studies. However, it faces challenges in terms of funding sustainability, integration into clinical workflows, and promoting diversity and equity in research resources.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Genetics & Heredity
Jodell E. Linder, Aimee Allworth, Sarah T. Bland, Pedro J. Caraballo, Rex L. Chisholm, Ellen Wright Clayton, David R. Crosslin, Ozan Dikilitas, Alanna DiVietro, Edward D. Esplin, Sophie Forman, Robert R. Freimuth, Adam S. Gordon, Richard Green, Maegan Harden, Ingrid A. Holm, Gail P. Jarvik, Elizabeth W. Karlson, Sofia Labrecque, Niall J. Lennon, Nita A. Limdi, Kathleen F. Mittendorf, Shawn N. Murphy, Lori Orlando, Cynthia A. Prows, Luke Rasmussen, Laura Rasmussen-Torvik, Robb Rowley, Konrad Teodor Sawicki, Tara Schmidlen, Shannon Terek, David Veenstra, Digna R. Velez Edwards, Devin Absher, Noura S. Abul-Husn, Jorge Alsip, Hana Bangash, Mark Beasley, Jennifer E. Below, Eta S. Berner, James Booth, Wendy K. Chung, James J. Cimino, John Connolly, Patrick Davis, Beth Devine, Stephanie M. Fullerton, Candace Guiducci, Melissa L. Habrat, Heather Hain, Hakon Hakonarson, Margaret Harr, Eden Haverfield, Valentina Hernandez, Christin Hoell, Martha Horike-Pyne, George Hripcsak, Marguerite R. Irvin, Christopher Kachulis, Dean Karavite, Eimear E. Kenny, Atlas Khan, Krzysztof Kiryluk, Bruce Korf, Leah Kottyan, Iftikhar J. Kullo, Katie Larkin, Cong Liu, Edyta Malolepsza, Teri A. Manolio, Thomas May, Elizabeth M. McNally, Frank Mentch, Alexandra Miller, Sean D. Mooney, Priyanka Murali, Brenda Mutai, Naveen Muthu, Bahram Namjou, Emma F. Perez, Megan J. Puckelwartz, Tejinder Rakhra-Burris, Dan M. Roden, Elisabeth A. Rosenthal, Seyedmohammad Saadatagah, Maya Sabatello, Dan J. Schaid, Baergen Schultz, Lynn Seabolt, Gabriel Q. Shaibi, Richard R. Sharp, Brian Shirts, Maureen E. Smith, Jordan W. Smoller, Rene Sterling, Sabrina A. Suckiel, Jeritt Thayer, Hemant K. Tiwari, Susan B. Trinidad, Theresa Walunas, Wei-Qi Wei, Quinn S. Wells, Chunhua Weng, Georgia L. Wiesner, Ken Wiley, Josh F. eMERGE Consortium, Josh F. Peterson
Summary: To assess the risk of common, complex diseases, it is important to consider clinical risk factors as well as monogenic and polygenic risks, which can be reflected in family history. Returning risk information to individuals and providers can impact preventive healthcare and the use of prophylactic therapies for those at high genetic risk.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Selina Casalino, Erika Frangione, Monica Chung, Georgia MacDonald, Sunakshi Chowdhary, Chloe Mighton, Hanna Faghfoury, Yvonne Bombard, Lisa Strug, Trevor J. Pugh, Jared Simpson, Saranya Arnoldo, Navneet Aujla, Erin Bearss, Alexandra Binnie, Bjug Borgundvaag, Howard Chertkow, Marc Clausen, Marc Dagher, Luke Devine, David Di Iorio, Steven Marc Friedman, Chun Yiu Jordan Fung, Anne-Claude Gingras, Lee W. Goneau, Deepanjali Kaushik, Zeeshan Khan, Elisa Lapadula, Tiffany Lu, Tony Mazzulli, Allison McGeer, Shelley L. McLeod, Gregory Morgan, David Richardson, Harpreet Singh, Seth Stern, Ahmed Taher, Iris Wong, Natasha Zarei, Elena Greenfeld, Limin Hao, Matthew Lebo, William Lane, Abdul Noor, Jennifer Taher, Jordan Lerner-Ellis
Summary: Rapid advancements in genome sequencing technology have improved our understanding of the relationship between genes and human disease. This study collected blood samples from COVID-19 patients and performed genome sequencing to analyze the data. The researchers developed a comprehensive report that includes information on disease risks, genetic variants, and ancestry. They emphasize the importance of genetic counseling and offer counseling and referrals for clinically significant findings.
Review
Genetics & Heredity
Carrie L. Blout Zawatsky, David Bick, Louise Bier, Birgit Funke, Matthew Lebo, Katie L. Lewis, Ekaterina Orlova, Emily Qian, Lauren Ryan, Marci L. B. Schwartz, Emily R. Soper
Summary: Genetic counseling for elective genomic testing (EGT) is becoming more common, which has the potential to detect genetic conditions before significant health impact. Pre- and post-test counseling for EGT require complete family and medical history, but there are special considerations due to uncertainties and lack of guidelines. This practice resource aims to provide guidance for genetic counselors and healthcare providers caring for adults seeking EGT counseling.
JOURNAL OF GENETIC COUNSELING
(2023)
Article
Genetics & Heredity
Honey V. Reddi, Hannah Wand, Birgit Funke, Michael T. Zimmermann, Matthew S. Lebo, Emily Qian, Brian H. Shirts, Ying S. Zou, Bing M. Zhang, Nancy C. Rose, Aya Abu-El-Haija
GENETICS IN MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Brenda Xiao, Digna Velez R. Edwards, Anastasia Lucas, Theodore Drivas, Kathryn Gray, Brendan Keating, Chunhua Weng, Gail P. Jarvik, Hakon Hakonarson, Leah Kottyan, Noemie Elhadad, Wei-Qi Wei, Yuan Luo, Dokyoon Kim, Marylyn Ritchie, Shefali Setia Verma
Summary: This study aimed to investigate the genetic overlap and impact of cardiometabolic traits on female-specific health conditions. The results showed that there is a significant association between cardiometabolic polygenic scores and certain female-specific health conditions.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Genetics & Heredity
Katerina S. Kucera, Beth Lincoln Boyea, Brooke Migliore, Sarah Nelson Potter, Veronica R. Robles, Oksana Kutsa, Heidi Cope, Katherine C. Okoniewski, Anne Wheeler, Catherine W. Rehder, Edward C. Smith, Holly L. Peay
Summary: Screening for elevated CK-MM levels in dried blood spots is a feasible method to identify newborns with DMD. Including specific cutoffs, repeat testing, and genetic sequencing can improve the accuracy and sensitivity of screening.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Madeline Currey, Ilana Solomon, Sarah Mcgraw, Jenny Shen, Francisco Munoz, Ernesto Sosa, Vanessa Puello-Lozano, Sam Wing, Lisa Lopez, Michelle Afkhami, Janine Lobello, Szabolcs Szelinger, Stacy W. Gray
Summary: This study conducted qualitative interviews with cancer patients and providers to identify gaps in clinical care and propose care delivery solutions for the return of secondary germline findings. The responses of patients varied depending on the amount of pre-test counseling they received, and providers identified insufficient clinic time as a major barrier to pretest education. Online support tools and standardized pre-test education models were favored by providers. There were differing perspectives on how pre-test education should be integrated into clinical workflows, but agreement on the inclusion of differences between somatic and germline testing, likelihood of medically actionable findings, and the possibility of being referred to a genetics provider.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kiely N. James, Shimul Chowdhury, Yan Ding, Sergey Batalov, Kelly Watkins, Yong Hyun Kwon, Lucitia Van Der Kraan, Katarzyna Ellsworth, Stephen F. Kingsmore, Lucia Guidugli
Summary: This study used genome sequencing to detect a wide range of copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types. These genetic alterations accounted for 15.8% of reported variants, with deletions being the most common type. The study also found that additional genetic tests were ordered in some cases, but failed to report the variants detected by genome sequencing.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Asem Berkalieva, Nicole R. Kelly, Ashley Fisher, Samuel F. Hohmann, Monisha Sebastin, Miranda Di Biase, Katherine E. Bonini, Priya Marathe, Jacqueline A. Odgis, Sabrina A. Suckiel, Michelle A. Ramos, Rosamond Rhodes, Noura S. Abul-Husn, John M. Greally, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelb, Bart S. Ferket
Summary: The study aims to understand the effects of returning diagnostic sequencing results on clinical actions and economic outcomes for pediatric patients with suspected genetic disorders. The results showed that patients with positive findings were more likely to receive specialist consultation, but there were no significant increases in overall physician services and costs. More large-scale studies are needed to confirm these findings.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Kirstine Stochholm, Camilla Holmgard, Shanlee M. Davis, Claus H. Gravholt, Agnethe Berglund
Summary: This study assessed the incidence, prevalence, and age at diagnosis of individuals with 45,X/46,XY mosaicism and described the associated mortality pattern. The study found an increasing incidence of 45,X/46,XY mosaicism in males and a stable incidence in females. Males were diagnosed at an older age than females. Additionally, 45,X/46,XY mosaicism was associated with increased all-cause mortality.
GENETICS IN MEDICINE
(2024)
Article
Genetics & Heredity
Yunjia Chen, Ender Karaca, Nathaniel H. Robin, Dana Goodloe, Ali Al-Beshri, S. Joy Dean, Anna C. E. Hurst, Andrew J. Carroll, Fady M. Mikhail
Summary: This study confirms the association between DLG2 intragenic deletions and neurodevelopmental disorders, supports the haploinsufficiency of the DLG2 gene, and suggests a potential association between these deletions and congenital anomalies and dysmorphism.
GENETICS IN MEDICINE
(2024)