Article
Multidisciplinary Sciences
Ruidong Xiang, Iona M. MacLeod, Hans D. Daetwyler, Gerben de Jong, Erin O'Connor, Chris Schrooten, Amanda J. Chamberlain, Michael E. Goddard
Summary: This study presents a method for fine-mapping potentially causal mutations by integrating functional, evolutionary, and pleiotropic information and developing a custom genotyping array. The custom array, containing variants with biological functions, outperformed the standard array in predicting genetic values for multiple traits in dairy cattle populations across different countries. This highlights the potential improvement in genomic prediction by utilizing mutations with functional, evolutionary, and pleiotropic consequences.
NATURE COMMUNICATIONS
(2021)
Article
Evolutionary Biology
Tram Vi, Yves Vigouroux, Philippe Cubry, Pierre Marraccini, Ha Viet Phan, Giang Ngan Khong, Valerie Poncet
Summary: Humans have played a significant role in spreading crops beyond their native range, creating new opportunities for hybridization. Analyzing admixed genomes can provide valuable information about the adaptive history of crops and their impact on current varietal diversity.
GENOME BIOLOGY AND EVOLUTION
(2023)
Article
Agronomy
Haijiang Liu, Maoyan Zou, Bingbing Zhang, Xinyu Yang, Pan Yuan, Guangda Ding, Fangsen Xu, Lei Shi
Summary: This study conducted a genome-wide association study on the genetic mechanisms of seed yield in oilseed rape, and identified several significant SNPs associated with seed yield. Two candidate genes were identified through transcriptome and candidate gene analysis. These results provide valuable information and resources for understanding the genetic control of seed yield in oilseed rape and breeding high-yield cultivars.
MOLECULAR BREEDING
(2022)
Article
Plant Sciences
Annamalai Anandan, Siddharth Panda, S. Sabarinathan, Anthony J. Travis, Gareth J. Norton, Adam H. Price
Summary: The study highlights the advantages of the direct seeded rice (DSR) system in terms of saving freshwater resources, reducing labor requirements, and increasing productivity and resource use efficiency, while reducing greenhouse gas emissions. Early root vigor is crucial for ensuring good crop growth, water and nutrient uptake, and weed competition in the DSR system. Genome-wide association studies identified genetic regions and candidate genes related to root architecture and nutrient acquisition. Additionally, a new QTL controlling root length at 14 days was discovered.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Clinical Neurology
Donghe Li, John J. Farrell, Jesse Mez, Eden R. Martin, William S. Bush, Agustin Ruiz, Merce Boada, Itziar de Rojas, Richard Mayeux, Jonathan L. Haines, Margaret A. Pericak Vance, Li-San Wang, Gerard D. Schellenberg, Kathryn L. Lunetta, Lindsay A. Farrer
Summary: This study identified several gene loci associated with Alzheimer's disease, including APOE, TREM2 R47H, rs541586606, and rs760573036, through the use of principal component analysis and Ashkenazi Jewish reference genome-wide association study data.
ALZHEIMERS & DEMENTIA
(2023)
Article
Multidisciplinary Sciences
Wei-Yu Lin, Sarah E. Fordham, Nicola Sunter, Claire Elstob, Thahira Rahman, Elaine Willmore, Colin Shepherd, Gordon Strathdee, Tryfonia Mainou-Fowler, Rachel Piddock, Hannah Mearns, Timothy Barrow, Richard S. Houlston, Helen Marr, Jonathan Wallis, Geoffrey Summerfield, Scott Marshall, Andrew Pettitt, Christopher Pepper, Christopher Fegan, Francesco Forconi, Martin J. S. Dyer, Sandrine Jayne, April Sellors, Anna Schuh, Pauline Robbe, David Oscier, James Bailey, Syed Rais, Alison Bentley, Lynn Cawkwell, Paul Evans, Peter Hillmen, Guy Pratt, David J. Allsup, James M. Allan
Summary: Prognostication in CLL patients is challenging due to its heterogeneous clinical course. This study identifies two genomic locations associated with disease progression, highlighting the impact of constitutional genetic variation on CLL prognosis. Additionally, functional genes implicated in modulating key pathways in CLL pathogenesis are identified.
NATURE COMMUNICATIONS
(2021)
Article
Cardiac & Cardiovascular Systems
Jaana A. Hartiala, Yi Han, Qiong Jia, James R. Hilser, Pin Huang, Janet Gukasyan, William S. Schwartzman, Zhiheng Cai, Subarna Biswas, David-Alexandre Tregouet, Nicholas L. Smith, Marcus Seldin, Calvin Pan, Margarete Mehrabian, Aldons J. Lusis, Peter Bazeley, Yan Sun, Chang Liu, Arshed A. Quyyumi, Markus Scholz, Joachim Thiery, Graciela E. Delgado, Marcus E. Kleber, Winfried Maerz, Laurence J. Howe, Folkert W. Asselbergs, Marion van Vugt, Georgios J. Vlachojannis, Riyaz S. Patel, Leo-Pekka Lyytikainen, Mika Kahonen, Terho Lehtimaki, Tuomo V. M. Nieminen, Pekka Kuukasjarvi, Jari O. Laurikka, Xuling Chang, Chew-Kiat Heng, Rong Jiang, William E. Kraus, Elizabeth R. Hauser, Jane F. Ferguson, Muredach P. Reilly, Kaoru Ito, Satoshi Koyama, Yoichiro Kamatani, Issei Komuro, Biobank Japan, Lindsey K. Stolze, Casey E. Romanoski, Mohammad Daud Khan, Adam W. Turner, Clint L. Miller, Redouane Aherrahrou, Mete Civelek, Lijiang Ma, Johan L. M. Bjorkegren, S. Ram Kumar, W. H. Wilson Tang, Stanley L. Hazen, Hooman Allayee
Summary: This study conducted a large-scale genome-wide association analysis on over 831,000 subjects and identified eight novel genetic determinants of myocardial infarction, implicating the SLC44A3 gene in the pathophysiology of vulnerable plaques.
EUROPEAN HEART JOURNAL
(2021)
Article
Allergy
Kyung Won Kim, Dong Yun Kim, Dankyu Yoon, Ka-Kyung Kim, Haerin Jang, Nathan Schoettler, Eun Gyul Kim, Mi Na Kim, Jung Yeon Hong, Jeom-Kyu Lee, Sangwoo Kim, Carole Ober, Heon Yung Gee, Myung Hyun Sohn
Summary: This study identified a new susceptibility gene, TNFSF15, and replicated associations at the 17q12-21 locus for childhood-onset asthma in Korean children with persistent asthma. The novel association may be mediated by reduced expression of serum TNFSF15 and loss of suppression of angiogenesis.
Article
Agronomy
Magdalena Ehn, Sebastian Michel, Laura Morales, Tyler Gordon, Hermann Gregor Dallinger, Hermann Buerstmayr
Summary: Common bunt, a fungal disease that threatens wheat yield and quality, has been successfully controlled by seed dressings with systemic fungicides. However, in organic agriculture where such treatments are forbidden, common bunt has become a renewed threat. This study aims to identify resistance loci in bread wheat accessions to broaden the spectrum of resistance sources available for breeders.
THEORETICAL AND APPLIED GENETICS
(2022)
Article
Allergy
Janet K. Jackman, Amy Stockwell, David F. Choy, Markus M. Xie, Peipei Lu, Guiquan Jia, Hong Li, Alexander R. Abbas, Paola G. Bronson, Wei-Yu Lin, Cecilia P. C. Chiu, Henry R. Maun, Merone Roose-Girma, Lucinda Tam, Juan Zhang, Zora Modrusan, Robert R. Graham, Timothy W. Behrens, Steven R. White, Ted Naureckas, Carole Ober, Manuel Ferreira, Radislav Sedlacek, Jiansheng Wu, Wyne P. Lee, Robert A. Lazarus, James T. Koerber, Joseph R. Arron, Brian L. Yaspan, Tangsheng Yi
Summary: This study identified a novel gene, KLK5, associated with T2-low asthma, and discovered its role in disease development through unbiased genome-wide association analysis and biological analysis.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Zhen-Fei Chao, Yuan-Yuan Chen, Chen Ji, Ya-Ling Wang, Xing Huang, Chu-Ying Zhang, Jun Yang, Tao Song, Jia-Chen Wu, Liang-Xing Guo, Chu-Bin Liu, Mei-Ling Han, Yong-Rui Wu, Jianbing Yan, Dai-Yin Chao
Summary: Through a genome-wide association study, researchers have identified the gene ZmYSL2 responsible for loading zinc to maize kernels, and found that it plays a key role in the natural variation of zinc concentration in maize kernels.
Article
Plant Sciences
Lihua Wang, Hari D. Upadhyaya, Jian Zheng, Yanlong Liu, Shailesh Kumar Singh, C. L. L. Gowda, Rajendra Kumar, Yongqun Zhu, Yi-Hong Wang, Jieqin Li
Summary: This study identified key loci controlling panicle length, panicle width, panicle compactness, and peduncle recurving in sorghum, providing a molecular basis for improving yield and adaptation in sorghum. Candidate genes, including orthologs of rice Erect Panicle2, were identified from these loci, suggesting potential mechanisms for regulating panicle morphology in sorghum.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Multidisciplinary Sciences
Garan Jones, Katerina Trajanoska, Adam J. Santanasto, Najada Stringa, Chia-Ling Kuo, Janice L. Atkins, Joshua R. Lewis, ThuyVy Duong, Shengjun Hong, Mary L. Biggs, Jian'an Luan, Chloe Sarnowski, Kathryn L. Lunetta, Toshiko Tanaka, Mary K. Wojczynski, Ryan Cvejkus, Maria Nethander, Sahar Ghasemi, Jingyun Yang, M. Carola Zillikens, Stefan Walter, Kamil Sicinski, Erika Kague, Cheryl L. Ackert-Bicknell, Dan E. Arking, B. Gwen Windham, Eric Boerwinkle, Megan L. Grove, Misa Graff, Dominik Spira, Ilja Demuth, Nathalie van der Velde, Lisette C. P. G. M. de Groot, Bruce M. Psaty, Michelle C. Odden, Alison E. Fohner, Claudia Langenberg, Nicholas J. Wareham, Stefania Bandinelli, Natasja M. van Schoor, Martijn Huisman, Qihua Tan, Joseph Zmuda, Dan Mellstrom, Magnus Karlsson, David A. Bennett, Aron S. Buchman, Philip L. De Jager, Andre G. Uitterlinden, Uwe Voelker, Thomas Kocher, Alexander Teumer, Leocadio Rodriguez-Manas, Francisco J. Garcia, Jose A. Carnicero, Pamela Herd, Lars Bertram, Claes Ohlsson, Joanne M. Murabito, David Melzer, George A. Kuchel, Luigi Ferrucci, David Karasik, Fernando Rivadeneira, Douglas P. Kiel, Luke C. Pilling
Summary: Low muscle strength is a heritable indicator of poor health in older people, with genetic loci associated with muscle weakness identified through genome-wide meta-analysis. Possible causal relationships with diabetes susceptibility, hematological parameters, and the immune system were also discovered using Mendelian randomization. The distinct mechanisms of muscle weakness from continuous strength were highlighted, shedding light on potential pathways involved in ageing.
NATURE COMMUNICATIONS
(2021)
Review
Plant Sciences
Sunil S. Gangurde, Alencar Xavier, Yogesh Dashrath Naik, Uday Chand Jha, Sagar Krushnaji Rangari, Raj Kumar, M. S. Sai Reddy, Sonal Channale, Dinakaran Elango, Reyazul Rouf Mir, Rebecca Zwart, C. Laxuman, Hari Kishan Sudini, Manish K. Pandey, Somashekhar Punnuri, Venugopal Mendu, Umesh K. Reddy, Baozhu Guo, N. V. P. R. Gangarao, Vinay K. Sharma, Xingjun Wang, Chuanzhi Zhao, Mahendar Thudi
Summary: Climate change affects plant diseases globally, posing a serious threat to global food security. Enhancing genetic resistance is an economic, sustainable, and environmentally friendly solution. Advances in next-generation sequencing have improved our understanding of trait genetics and facilitated the discovery of resistance genes.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Multidisciplinary Sciences
Seyhan Yazar, Jose Alquicira-Hernandez, Kristof Wing, Anne Senabouth, M. Grace Gordon, Stacey Andersen, Qinyi Lu, Antonia Rowson, Thomas R. P. Taylor, Linda Clarke, Katia Maccora, Christine Chen, Anthony L. Cook, Chun Jimmie Ye, Kirsten A. Fairfax, Alex W. Hewitt, Joseph E. Powell
Summary: This study utilizes single-cell RNA sequencing to uncover the genetic drivers of interindividual variation in the human immune system. The researchers identify specific loci that have cell type-specific effects on gene expression and demonstrate dynamic allelic effects in B cells. Additionally, they use Mendelian randomization to determine the causal route by which risk loci contribute to autoimmune disease at the cellular level.
Article
Neurosciences
Gabriella A. M. Blokland, Jakob Grove, Chia-Yen Chen, Chris Cotsapas, Stuart Tobet, Robert Handa, David St Clair, Todd Lencz, Bryan J. Mowry, Sathish Periyasamy, Murray J. Cairns, Paul A. Tooney, Jing Qin Wu, Brian Kelly, George Kirov, Patrick F. Sullivan, Aiden Corvin, Brien P. Riley, Tonu Esko, Lili Milani, Erik G. Jonsson, Aarno Palotie, Hannelore Ehrenreich, Martin Begemann, Agnes Steixner-Kumar, Pak C. Sham, Nakao Iwata, Daniel R. Weinberger, Pablo Gejman, Alan R. Sanders, Joseph D. Buxbaum, Dan Rujescu, Ina Giegling, Bettina Konte, Annette M. Hartmann, Elvira Bramon, Robin M. Murray, Michele T. Pato, Jimmy Lee, Ingrid Melle, Espen Molden, Roel A. Ophoff, Andrew McQuillin, Nicholas J. Bass, Rolf Adolfsson, Anil K. Malhotra, Nicholas G. Martin, Janice M. Fullerton, Philip B. Mitchell, Peter R. Schofield, Andreas J. Forstner, Franziska Degenhardt, Sabrina Schaupp, Ashley L. Comes, Manolis Kogevinas, Jose Guzman-Parra, Andreas Reif, Fabian Streit, Lea Sirignano, Sven Cichon, Maria Grigoroiu-Serbanescu, Joanna Hauser, Jolanta Lissowska, Fermin Mayoral, Bertram Muller-Myhsok, Thomas G. Schulze, Markus M. Nothen, Marcella Rietschel, John Kelsoe, Marion Leboyer, Stephane Jamain, Bruno Etain, Frank Bellivier, John B. Vincent, Martin Alda, Claire O'Donovan, Pablo Cervantes, Joanna M. Biernacka, Mark Frye, Susan L. McElroy, Laura J. Scott, Eli A. Stahl, Mikael Landen, Marian L. Hamshere, Olav B. Smeland, Srdjan Djurovic, Arne E. Vaaler, Ole A. Andreassen, Bernhard T. Baune, Tracy Air, Martin Preisig, Rudolf Uher, Douglas F. Levinson, Myrna M. Weissman, James B. Potash, Jianxin Shi, James A. Knowles, Roy H. Perlis, Susanne Lucae, Dorret Boomsma, Brenda W. J. H. Penninx, Jouke-Jan Hottenga, Eco J. C. de Geus, Gonneke Willemsen, Yuri Milaneschi, Henning Tiemeier, Hans J. Grabe, Alexander Teumer, Sandra Van der Auwera, Uwe Volker, Steven P. Hamilton, Patrik K. E. Magnusson, Alexander Viktorin, Divya Mehta, Niamh Mullins, Mark J. Adams, Gerome Breen, Andrew M. McIntosh, Cathryn M. Lewis, David M. Hougaard, Merete Nordentoft, Ole Mors, Preben B. Mortensen, Thomas Werge, Thomas D. Als, Anders D. Borglum, Tracey L. Petryshen, Jordan W. Smoller, Jill M. Goldstein
Summary: The study found significant sex-dependent genetic risk in schizophrenia, major depressive disorder, and bipolar disorder, with implications for genes related to neuronal development, immune functions, and vascular functions across and within these disorders. This suggests substantial genetic overlap between sexes in mood and psychotic disorders, with sex-specific effects enriched for genes involved in various physiological functions.
BIOLOGICAL PSYCHIATRY
(2022)
Article
Geriatrics & Gerontology
Tamir Eisenstein, Nir Giladi, Talma Hendler, Ofer Havakuk, Yulia Lerner
Summary: The study found that aerobic activity and cardiorespiratory fitness in older adults are associated with neurocognitive abilities and identified potential neural pathways mediating this relationship. The results support a neuroprotective role of aerobic exercise on the aging brain.
NEUROBIOLOGY OF AGING
(2022)
Article
Neurosciences
Anita D. Barber, Juan A. Gallego, Pamela DeRosse, Michael L. Birnbaum, Todd Lencz, Sana A. Ali, Ashley Moyett, Anil K. Malhotra
Summary: This study found that autonomic arousal-related activity is associated with cognitive performance and the pathophysiology of first-episode psychosis. The impact of altered autonomic arousal on cognitive performance in these patients is still unknown.
BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING
(2023)
Article
Genetics & Heredity
Jacqueline A. A. Odgis, Katie M. M. Gallagher, Atteeq U. U. Rehman, Priya N. N. Marathe, Katherine E. E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. R. Kelly, Michelle A. A. Ramos, Amanda Thomas-Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. E. Zinberg, Noura S. S. Abul-Husn, George A. A. Diaz, John M. M. Greally, Sabrina A. A. Suckiel, Vaidehi Jobanputra, Carol R. R. Horowitz, Eimear E. E. Kenny, Melissa P. P. Wasserstein, Bruce D. D. Gelb
Summary: The increased use of next-generation sequencing has helped us understand the involvement and prevalence of mosaicism in genetic disorders. This study provides evidence of mosaic variants causing genetic conditions in eleven cases and highlights the importance of mosaicism in childhood-onset genetic disorders. The study also suggests that genome sequencing is better at detecting mosaicism compared to targeted gene panels.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Chemistry, Analytical
Dan Z. Milikovsky, Yotam Sharabi, Nir Giladi, Anat Mirelman, Ronen Sosnik, Firas Fahoum, Inbal Maidan
Summary: This study aimed to examine the presence of paroxysmal slow-wave events (PSWE) as a biomarker for cortical involvement in Parkinson's disease (PD). The results showed no significant differences in the number of PSWEs between PD patients and controls in all brain regions. However, the correlation between PSWEs and disease duration suggests early signs of cortical involvement in PD.
Editorial Material
Ethics
Remy Furrer, Shai Carmi, Todd Lencz, Gabriel Lazaro-Munoz
AMERICAN JOURNAL OF BIOETHICS
(2023)
Article
Genetics & Heredity
Katherine E. Bonini, Amanda Thomas-Wilson, Priya N. Marathe, Monisha Sebastin, Jacqueline A. Odgis, Miranda Di Biase, Nicole R. Kelly, Michelle A. Ramos, Beverly J. Insel, Laura Scarimbolo, Atteeq U. Rehman, Saurav Guha, Volkan Okur, Avinash Abhyankar, Shruti Phadke, Caroline Nava, Katie M. Gallagher, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul-Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Carol R. Horowitz, Eimear E. Kenny, Melissa Wasserstein, Bruce D. Gelb, Vaidehi Jobanputra
Summary: This study reports the frequency of CNVs detected with GS in a diverse pediatric cohort and highlights its clinical impact. The results demonstrate the benefits of GS for reliable detection of CNVs in individuals with variable phenotypes.
Article
Genetics & Heredity
Chia-Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sanchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Z. Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang, Mark Daly, Aarno Palotie, Ellen A. Tsai, Hailiang Huang, Matthew E. Hurles, Sebastian S. Gerety, Todd Lencz, Heiko Runz
Summary: A large-scale exome study identifies eight genes associated with adult cognitive function through rare coding variants with large effects. The rare genetic architecture for cognitive function partially overlaps with that of neurodevelopmental disorders. The study reveals the relevance of rare coding variants and high-impact monogenic contributions to the distribution of cognitive function in the adult population.
Article
Clinical Neurology
Shachar Shani, Orly Goldstein, Mali Gana-Weisz, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N. Alcalay, Avi Orr-Urtreger
Summary: Recent studies have found a link between Parkinson's disease (PD) and changes in the innate immune system. This study aimed to determine if genetic variations in innate immune genes are differentially associated with PD in different subgroups, including GBA-PD, LRRK2-PD, and non-carrier PD (NC-PD).
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Neurosciences
Jonathan Tamaiev, Zachary Bergson, Xiaowei Sun, Dipta Roy, Gunjan Desai, Todd Lencz, Anil Malhotra, Jian-Ping Zhang
Summary: The utilization of pharmacogenetic testing in psychiatry is increasing and patients have positive attitudes towards it, believing that it can improve treatment. A survey showed that most patients were willing to undergo pharmacogenetic testing and believed it would be helpful for their doctors. However, concerns were raised about the cost and insurance coverage of the testing.
CURRENT BEHAVIORAL NEUROSCIENCE REPORTS
(2023)
Article
Genetics & Heredity
Noura S. Abul-Husn, Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M. Gallagher, Saurav Guha, Nicolette Ioele, Volkan Okur, Michelle A. Ramos, Jessica E. Rodriguez, Atteeq U. Rehman, Amanda Thomas-Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Diaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny, Bruce D. Gelh
Summary: This study evaluated the diagnostic yield of genome sequencing (GS) and targeted gene panel (TGP) testing in pediatric patients with suspected genetic conditions. The results showed that GS had a higher diagnostic yield than TGP, and the effectiveness varied across different population groups.
GENETICS IN MEDICINE
(2023)
Article
Neurosciences
Hengyi Cao, Anita D. Barber, Jose M. Rubio, Miklos Argyelan, Juan A. Gallego, Todd Lencz, Anil K. Malhotra
Summary: This study investigates the influence of phase encoding direction (PED) on the test-retest reliability of functional connectome in fMRI studies. The results show that PA scans have significantly higher intraclass correlation coefficients (ICCs) for global, nodal, and edge connectivity compared to AP scans. Better temporal signal-to-noise ratio (tSNR) reliability is also observed in PA scans. Averaging the connectivity outcome from both PEDs can increase ICCs, especially at the nodal and edge levels.
Article
Chemistry, Analytical
Eden Shkury, Shani Danziger-Schragenheim, Zoya Katzir, Yael Ezra, Nir Giladi, Anat Mirelman, Inbal Maidan
Summary: This study investigated the neurophysiological changes in Parkinson's disease patients with and without the G2019S-LRRK2 gene mutation. The results showed that patients with the mutation performed better in cognitive tasks and exhibited more efficient early cognitive processes, which may contribute to their better cognitive performance.
Article
Cardiac & Cardiovascular Systems
Thomas Hays, Rebecca Hernan, Michele Disco, Emily L. Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda T. Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung
Summary: This study is the first prospective evaluation of rapid genome sequencing (rGS) for improving the care of infants with complex congenital heart disease (CHD). The study found that rGS diagnosed genetic disorders in 27% of cases and led to changes in clinical management in 62% of cases with diagnostic results. These findings highlight the important role of rGS in CHD and demonstrate the need for further research on implementing this resource in a broader population of infants with CHD.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Meeting Abstract
Neurosciences
Daniel Levey, Marco Galimberti, Emma Johnson, Megan Cooke, Veera Rajagopal, Joseph Deak, Hang Zhou, Max Lam, Yaira Nunez, Renato Polimanti, Todd Lencz, Panos Roussos, Jordan Smoller, Ditte Demontis, Arpana Agrawal, J. Michael Gaziano, Murray Stein, Joel Gelernter
BIOLOGICAL PSYCHIATRY
(2022)