Article
Biochemistry & Molecular Biology
Yoshitaka Sakamoto, Suzuko Zaha, Yutaka Suzuki, Masahide Seki, Ayako Suzuki
Summary: Long-read sequencing technologies have significantly advanced cancer genomics research by enabling precise detection of structural variants (SVs) and unveiling their complex structures, as well as revealing epigenomic information surrounding SV loci. This provides a new opportunity for better understanding disease development and drug development.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2021)
Article
Biochemical Research Methods
Wenyan Gu, Aizhong Zhou, Lusheng Wang, Shiwei Sun, Xuefeng Cui, Daming Zhu
Summary: Long-read sequencing technologies have enabled the detection of genome structural variants, with the SVLR method being able to detect new types of SVs and achieve high accuracy levels. Additionally, SVLR shows improvements in recall rates for classic SVs without compromising precision.
JOURNAL OF COMPUTATIONAL BIOLOGY
(2021)
Review
Biochemical Research Methods
Jiadong Lin, Peng Jia, Songbo Wang, Walter Kosters, Kai Ye
Summary: Structural variant (SV) detection is essential for genomic studies, and comparing read-based and assembly-based strategies is important. This study investigated the factors that influence the two strategies and assessed their performance using well-curated SVs. It was found that a majority of SVs could be detected by both strategies, but discordance was mainly caused by complex SVs and inversions.
BRIEFINGS IN BIOINFORMATICS
(2023)
Article
Genetics & Heredity
Alejandra Damian, Gonzalo Nunez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodriguez de Alba, Cristina Villaverde, Cedric Fund, Marc Delepine, Aurelie Leduc, Jean Francois Deleuze, Pablo Minguez, Carmen Ayuso, Marta Corton
Summary: In this study, long-read sequencing technology was used to uncover cryptic pathogenic structural variants (SVs) in two unresolved PAX6-negative cases of congenital aniridia. The study highlights the limitations of traditional short-read sequencing in detecting pathogenic SVs in low-complexity regions of the genome and demonstrates the value of long-read sequencing in identifying hidden sources of variation in rare genetic diseases.
Article
Genetics & Heredity
Daniel Danis, Julius O. B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Christopher J. Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson
Summary: This paper introduces a method called SvAnna for structural variant annotation and analysis, which can effectively detect SVs, determine their effects on gene function and clinical phenotype, and provide prioritization rankings. This method contributes to the widespread adoption of long-read sequencing in diagnostic genomics.
Article
Genetics & Heredity
Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun
Summary: Technological advances in Next-Generation Sequencing have improved clinical efficiency of genetic testing by detecting various genetic variants. However, short read sequencing still has limitations that can only be addressed by orthogonal confirmation. Long read sequencing technology compensates for these limitations and improves the detection of variants. At Variantyx, a combined approach using short read WGS-based variant detection with ONT long read sequencing has been developed to provide reliable and efficient clinical genetic testing.
FRONTIERS IN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Shangzhe Zhang, Wenyu Liu, Xinfeng Liu, Xin Du, Ke Zhang, Yang Zhang, Yongwu Song, Yunnan Zi, Qiang Qiu, Johannes A. Lenstra, Jianquan Liu
Summary: This study presents a chromosome-scale reference genome for domestic yaks and identifies a large number of structural variants (SVs) that contain repetitive DNA sequences, with some located near genes. By comparing SVs in domestic and wild yaks, genes related to the nervous system, behavior, immunity, and reproduction were found to have potentially been targeted by artificial selection during yak domestication, providing new insights into the domestication of high-altitude animals.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biotechnology & Applied Microbiology
Xiaoke Duan, Mingpei Pan, Shaohua Fan
Summary: This study provides an in-depth evaluation of long-read SV genotyping methods. The results show that cuteSV and LRcaller perform similarly and are superior for insertions and deletions, while LRcaller yields the most accurate results for duplications, inversions, and translocations. cuteSV and LRcaller also outperform other methods for genotyping SVs in tandem repeat regions or with imprecise breakpoints. Furthermore, the F1 scores of these methods reach the point of diminishing returns at 20x depth of coverage.
Article
Plant Sciences
Yi Zou, Weidong Zhu, Daniel B. Sloan, Zhiqiang Wu
Summary: Long-read sequencing technology provides detailed insights into the dynamics of recombination in plant organellar genomes, revealing distribution of recombination breakpoints and internal exchange of sequence variants in mitochondrial genomes of msh1 mutants.
Article
Biochemistry & Molecular Biology
Cheng Quan, Hao Lu, Yiming Lu, Gangqiao Zhou
Summary: Population-scale studies of structural variation are expanding rapidly with the advancement of long-read sequencing technology. The reference bias poses challenges in large-scale genotyping. Academic efforts to improve genotype quality through graphical representation of reference and alternative alleles have shown promising results in large and diverse cohorts.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Biochemical Research Methods
Yongzhuang Liu, Yalin Huang, Guohua Wang, Yadong Wang
Summary: Short read whole genome sequencing is widely used in human genetic studies and clinical practices for detecting structural variants, but accurate detection is challenging. This study introduces a novel deep learning-based approach, DeepSVFilter, for filtering structural variants in short read whole genome sequencing data.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Biotechnology & Applied Microbiology
Harmeet Singh Chawla, HueyTyng Lee, Iulian Gabur, Paul Vollrath, Suriya Tamilselvan-Nattar-Amutha, Christian Obermeier, Sarah V. Schiessl, Jia-Ming Song, Kede Liu, Liang Guo, Isobel A. P. Parkin, Rod J. Snowdon
Summary: Genome structural variation plays a crucial role in trait variation in plants and has a significant impact on evolutionary and adaptation-related traits. Long-read sequencing technologies can reveal widespread small- to mid-scale SV in plants and uncover unexpected levels of functional gene variation, with major implications for trait regulation and crop improvement.
PLANT BIOTECHNOLOGY JOURNAL
(2021)
Article
Clinical Neurology
Kensuke Daida, Manabu Funayama, Kimberley J. Billingsley, Laksh Malik, Abigail Miano-Burkhardt, Hampton L. Leonard, Mary B. Makarious, Hirotaka Iwaki, Jinhui Ding, J. Raphael Gibbs, Mayu Ishiguro, Hiroyo Yoshino, Kotaro Ogaki, Genko Oyama, Kenya Nishioka, Risa Nonaka, Wado Akamatsu, Cornelis Blauwendraat, Nobutaka Hattori
Summary: This study identified a large novel 7 Mb inversion involving PRKN, which is associated with young-onset Parkinson's disease. Long-read sequencing proved to be valuable for detecting complex structural variants in unresolved PD cases. The findings highlight the importance of investigating structural variants in PRKN using advanced sequencing technologies.
MOVEMENT DISORDERS
(2023)
Review
Biochemical Research Methods
Tianjiao Zhang, Jie Zhou, Wentao Gao, Yuran Jia, Yanan Wei, Guohua Wang
Summary: High-quality genome chromosome-scale sequences are crucial for genomics downstream analysis, especially in the construction of haplotype-resolved and complete genomes. The emergence of long-read sequencing technology has greatly improved complex genome assembly. Among various computational methods, uncollapsed assembly is the most accurate and complete way to represent genomes. Genome assembly is closely related to haplotype reconstruction.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Genetics & Heredity
Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Arpaed Ferenc Kovaecs, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J. E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E. L. M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P. M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing
Summary: This study revisited short-read genome sequencing data and improved the identification and interpretation of gene-disruptive structural variants in inherited retinal diseases. The findings suggest that the current contribution of structural variants in these diseases is still underestimated.
GENETICS IN MEDICINE
(2023)
Article
Clinical Neurology
Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Federico Roncaroli, Shivaram Avula, Martin G. McCabe, James T. Hayden, Pieter Wesseling, Ingrid Ora, Monica Nister, Mariette E. G. Kranendonk, Bastiaan B. J. Tops, Michal Zapotocky, Josef Zamecnik, Alexandre Vasiljevic, Tanguy Fenouil, David Meyronet, Katja von Hoff, Ulrich Schuller, Hugues Loiseau, Dominique Figarella-Branger, Christof M. Kramm, Dominik Sturm, David Scheie, Tuomas Rauramaa, Jouni Pesola, Johannes Gojo, Christine Haberler, Sebastian Brandner, Tom Jacques, Alexandra Sexton Oates, Richard Saffery, Ewa Koscielniak, Suzanne J. Baker, Stephen Yip, Matija Snuderl, Nasir Ud Din, David Samuel, Kathrin Schramm, Mirjam Blattner-Johnson, Florian Selt, Jonas Ecker, Till Milde, Andreas von Deimling, Andrey Korshunov, Arie Perry, Stefan M. Pfister, Felix Sahm, David A. Solomon, David T. W. Jones
Summary: Pediatric central nervous system (CNS) tumors are the leading cause of cancer-related death in children aged 0-14 years. A newly identified CNS tumor type characterized by PLAGL1/2 amplification and a lack of recurrent genetic alterations has been described. These tumors are composed of primitive embryonal-like cells and are associated with intermediate survival, but the cell of origin and optimal treatment strategies are yet to be determined.
ACTA NEUROPATHOLOGICA
(2023)
Article
Biotechnology & Applied Microbiology
Rahul Arora, Logan Haynes, Mehul Kumar, Reid McNeil, Jahanshah Ashkani, Steven C. Nakoneshny, T. Wayne Matthews, Shamir Chandarana, Robert D. Hart, Steven J. M. Jones, Joseph C. Dort, Doha Itani, Ayan Chanda, Pinaki Bose
Summary: There is a lack of prognostic biomarkers and targeted therapeutics for oral squamous cell carcinoma (OSCC). However, amplification of the chromosomal segment 3q22-3q29 is observed in many epithelial cancers, including OSCC. Through an integrative analysis, we identified NCBP2 and TFRC as potential prognostic biomarkers for HPV-negative OSCC, and showed that NCBP2 depletion can inhibit OSCC cell proliferation, migration, and invasion.
CANCER GENE THERAPY
(2023)
Article
Biochemistry & Molecular Biology
Kilannin Krysiak, Arpad M. Danos, Jason Saliba, Joshua F. McMichael, Adam C. Coffman, Susanna Kiwala, Erica K. Barnell, Lana Sheta, Cameron J. Grisdale, Lynzey Kujan, Shahil Pema, Jake Lever, Sarah Ridd, Nicholas C. Spies, Veronica Andric, Andreea Chiorean, Damian T. Rieke, Kaitlin A. Clark, Caralyn Reisle, Ajay C. Venigalla, Mark Evans, Payal Jani, Hideaki Takahashi, Avila Suda, Peter Horak, Deborah Ritter, Xin Zhou, Benjamin J. Ainscough, Sean Delong, Chimene Kesserwan, Mario Lamping, Haolin Shen, Alex R. Marr, My H. Hoang, Kartik Singhal, Mariam Khanfar, Brian Li, Wan-Hsin Lin, Panieh Terraf, Laura B. Corson, Yasser Salama, Katie M. Campbell, Kirsten M. Farncombe, Jianling Ji, Xiaonan Zhao, Xinjie Xu, Rashmi Kanagal-Shamanna, Ian King, Kelsy C. Cotto, Zachary L. Skidmore, Jason R. Walker, Jinghui Zhang, Aleksandar Milosavljevic, Ronak Y. Patel, Rachel H. Giles, Raymond H. Kim, Lynn M. Schriml, Elaine R. Mardis, Steven J. M. Jones, Gordana Raca, Shruti Rao, Subha Madhavan, Alex H. Wagner, Malachi Griffith, Obi L. Griffith
Summary: CIVIC is a crowd-sourced, public domain knowledgebase that provides literature-derived evidence characterizing the clinical utility of cancer variants. It supports variant interpretation guidelines, increases interoperability with other variant resources, and promotes widespread dissemination of structured curated data. It currently includes over 300 contributors and represents >3200 variants in >470 genes from >3100 publications.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Katherine Dixon, Yaoqing Shen, Kieran O'Neill, Karen L. L. Mungall, Simon Chan, Steve Bilobram, Wei Zhang, Marjorie Bezeau, Alshanee Sharma, Alexandra Fok, Andrew J. J. Mungall, Richard Moore, Ian Bosdet, My Linh Thibodeau, Sophie Sun, Stephen Yip, Kasmintan A. A. Schrader, Steven J. M. Jones
Summary: Nanopore long-read sequencing accurately detects pathogenic copy number alterations in cancer susceptibility genes and reveals unforeseen allelic heterogeneity and mechanisms of recurrent deletions. Integrating read-based and statistical phasing helps define extended haplotypes associated with founder alleles. Long-read sequencing is a sensitive method for characterizing private, recurrent and founder structural variants underlying breast cancer susceptibility.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
E. Titmuss, K. Milne, M. R. Jones, T. Ng, J. T. Topham, S. D. Brown, D. F. Schaeffer, S. Kalloger, D. Wilson, R. D. Corbett, L. M. Williamson, K. Mungall, A. J. Mungall, R. A. Holt, B. H. Nelson, S. J. M. Jones, J. Laskin, H. J. Lim, M. A. Marra
Summary: The POG program at BC Cancer identified specific alterations in colorectal cancer using whole genome and transcriptome analysis, and successfully treated a patient with irbesartan, an antihypertensive drug, resulting in a profound and durable response. Analysis showed an increase in immune signaling and infiltrating immune cells, particularly CD8+ T cells, in the relapsed tumor, suggesting an activated immune response contributed to the anti-tumor effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Ana Nikolic, Francesca Maule, Anna Bobyn, Katrina Ellestad, Seungil Paik, Sajid A. Marhon, Parinaz Mehdipour, Xueqing Lun, Huey-Miin Chen, Claire Mallard, Alexander J. Hay, Michael J. Johnston, Christopher J. Gafuik, Franz J. Zemp, Yaoqing Shen, Nicoletta Ninkovic, Katalin Osz, Elodie Labit, N. Daniel Berger, Duncan K. Brownsey, John J. Kelly, Jeff Biernaskie, Peter B. Dirks, Darren J. Derksen, Steven J. M. Jones, Donna L. Senger, Jennifer A. Chan, Douglas J. Mahoney, Daniel D. De Carvalho, Marco Gallo
Summary: The histone variant macroH2A2 controls an epigenetic mechanism of self-renewal and suggests new treatment approaches for glioblastoma patients.
NATURE COMMUNICATIONS
(2023)
Article
Genetics & Heredity
Eric B. Rondeau, Kris A. Christensen, David R. Minkley, Jong S. Leong, Michelle T. T. Chan, Cody A. Despins, Anita Mueller, Dionne Sakhrani, Carlo A. Biagi, Quentin Rougemont, Eric Normandeau, Steven J. M. Jones, Robert H. Devlin, Ruth E. Withler, Terry D. Beacham, Kerry A. Naish, Jose M. Yanez, Roberto Neira, Louis Bernatchez, William S. Davidson, Ben F. Koop
Summary: The coho salmon populations in North America have significantly declined, and analysis of genomic data suggests bottleneck events after glacial retreat as a possible cause. A chromosome-level genome assembly and genome resequencing of 83 coho salmon were performed to aid in stock management and conservation efforts.
G3-GENES GENOMES GENETICS
(2023)
Article
Oncology
Erica S. S. Tsang, Veronika Csizmok, Laura M. M. Williamson, Erin Pleasance, James T. T. Topham, Joanna M. M. Karasinska, Emma Titmuss, Intan Schrader, Stephen Yip, Basile Tessier-Cloutier, Karen Mungall, Tony Ng, Sophie Sun, Howard J. J. Lim, Jonathan M. M. Loree, Janessa Laskin, Marco A. A. Marra, Steven J. M. Jones, David F. F. Schaeffer, Daniel J. J. Renouf
Summary: Emerging evidence suggests a predictive role of homologous recombination deficiency (HRD) in gastrointestinal and thoracic malignancies. In this study, whole genome and transcriptomic data were reviewed to evaluate HRD scores and single base substitution 3 (SBS3) in advanced GI and thoracic cancers. The association between HRD and time to progression on platinum (TTPp) was examined, and it was found that SBS3 was more strongly associated with TTPp in GI malignancies. Tumors with gBRCA1/2 mutations and a somatic second alteration showed high SBS3 and HRD scores, indicating potential therapeutic targets.
NPJ PRECISION ONCOLOGY
(2023)
Article
Oncology
Elie J. Ritch, Cameron Herberts, Evan W. Warner, Sarah W. S. Ng, Edmond M. Kwan, Jack V. W. Bacon, Cecily Q. Bernales, Elena Schonlau, Nicolette M. Fonseca, Veda N. Giri, Corinne Maurice-Dror, Gillian Vandekerkhove, Steven J. M. Jones, Kim N. N. Chi, Alexander W. Wyatt
Summary: Specific classes of DNA damage repair defects can increase sensitivity to emerging therapies for metastatic prostate cancer. However, biomarker approaches based on DDR gene sequencing are not accurate predictors of DDR deficiency or treatment efficacy. We developed a machine learning approach using whole-exome sequencing data to simultaneously identify multiple types of DDR deficiencies in metastatic prostate cancer.
NPJ PRECISION ONCOLOGY
(2023)
Article
Genetics & Heredity
S. Yoo, E. Garg, L. T. Elliott, R. J. Hung, A. R. Halevy, J. D. Brooks, S. B. Bull, F. Gagnon, C. M. T. Greenwood, J. F. Lawless, A. D. Paterson, L. Sun, M. H. Zawati, J. Lerner-Ellis, R. J. S. Abraham, I Birol, G. Bourque, J-m Garant, C. Gosselin, J. Li, J. Whitney, B. Thiruvahindrapuram, J-a Herbrick, M. Lorenti, M. S. Reuter, O. O. Adeoye, S. Liu, U. Allen, F. P. Bernier, C. M. Biggs, A. M. Cheung, J. Cowan, M. Herridge, D. M. Maslove, B. P. Modi, V Mooser, S. K. Morris, M. Ostrowski, R. S. Parekh, G. Pfeffer, O. Suchowersky, J. Taher, J. Upton, R. L. Warren, R. S. M. Yeung, N. Aziz, S. E. Turvey, B. M. Knoppers, M. Lathrop, S. J. M. Jones, S. W. Scherer, L. J. Strug
Summary: HostSeq was launched in April 2020 to integrate whole genome sequencing data and clinical information of 10,000 Canadians infected with SARS-CoV-2. It aims to support research communities in understanding disease risk factors and developing interventions. HostSeq is a collaboration among 13 epidemiological studies across five provinces in Canada, providing aggregated data through two portals and individual-level data for global health research.
Review
Clinical Neurology
Pedram Laghaei Farimani, Alexander D. D. Rebchuk, Stephano J. J. Chang, Stephen Yip, Cynthia Hawkins, Tamir T. T. Ailon
Summary: We report a case of a 31-year-old male with progressive myelopathy due to thoracic pilocytic astrocytoma (PA) that transformed into diffuse leptomeningeal glioneuronal tumor (DLGNT) with high-grade features. Our case is the first reported adult-onset spinal PA malignant transformation to DLGNT. This highlights the need for novel management approaches and contributes to the limited clinical data on such transformations.
ACTA NEUROCHIRURGICA
(2023)
Article
Oncology
Roy Avraham Hilzenrat, Stephen Yip, Barbara Melosky, Cheryl Ho, Janessa Laskin, Sophie Sun, James J. Choi, Anna L. McGuire
Summary: The outcomes for early-stage NSCLC are not satisfactory despite advances in systemic therapy. The BC lung cancer screening program aims to identify NSCLC patients at different stages. Understanding the molecular epidemiology and treatment initiation time across various regions in BC is crucial to optimize care for NSCLC. The study found that actionable driver mutations were present in all regions, but there were disparities in the time to initiate treatment.
Article
Cell Biology
Vahid Akbari, Vincent C. T. Hanlon, Kieran O'Neill, Louis Lefebvre, Kasmintan A. Schrader, Peter M. Lansdorp, Steven J. M. Jones
Summary: Researchers have developed a method to determine the parent of origin for all human autosomes by integrating methylation-detecting nanopore sequencing with Strand-seq data. This method has the potential to improve the diagnosis and management of genetic diseases.
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)