4.8 Article

MethylomeDB: a database of DNA methylation profiles of the brain

期刊

NUCLEIC ACIDS RESEARCH
卷 40, 期 D1, 页码 D1245-D1249

出版社

OXFORD UNIV PRESS
DOI: 10.1093/nar/gkr1193

关键词

-

资金

  1. National Institutes of Health (NIH) [HG002915]
  2. National Institutes of Mental Health (NIMH) [MH074118]

向作者/读者索取更多资源

MethylomeDB http://epigenomics.columbia.edu/methylomedb/index.html) is a new database containing genome-wide brain DNA methylation profiles. DNA methylation is an important epigenetic mark in the mammalian brain. In human studies, aberrant DNA methylation alterations have been associated with various neurodevelopmental and neuropsychiatric disorders such as schizophrenia, and depression. In this database, we present methylation profiles of carefully selected non-psychiatric control, schizophrenia, and depression samples. We also include data on one mouse forebrain sample specimen to allow for cross-species comparisons. In addition to our DNA methylation data generated in-house, we have and will continue to include published DNA methylation data from other research groups with the focus on brain development and function. Users can view the methylation data at single-CpG resolution with the option of wiggle and microarray formats. They can also download methylation data for individual samples. MethylomeDB offers an important resource for research into brain function and behavior. It provides the first source of comprehensive brain methylome data, encompassing whole-genome DNA methylation profiles of human and mouse brain specimens that facilitate cross-species comparative epigenomic investigations, as well as investigations of schizophrenia and depression methylomes.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.8
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Allergy

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

Hyuk Jee, Zhengping Huang, Samantha Baxter, Yuelong Huang, Maria L. Taylor, Lauren A. Henderson, Sofia Rosenzweig, Aman Sharma, Eugene P. Chambers, Michael S. Hershfield, Qing Zhou, Fatma Dedeoglu, Ivona Aksentijevich, Peter A. Nigrovic, Anne O'Donnell-Luria, Pui Y. Lee

Summary: This study characterized the functional impact and carrier frequency of ADA2 variants. Functional studies revealed that a majority of DADA2-associated variants reduced ADA2 enzymatic function. In silico analysis and correlation studies confirmed the accuracy of ADA2 variant prediction. Integration of the results with population data estimated a carrier frequency and disease prevalence for DADA2.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2022)

Article Genetics & Heredity

O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne H. O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus C. Y. Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denomme-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M. B. H. van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphne Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S. Pais, Heather Paterson, Subhadra Ramanathan, Lance H. Rodan, Andrea Superti-Furga, Brian H. Y. Chung, Elliott Sherr, Christian Netzer, Christian P. Schaaf, Florian Erger

Summary: ODLURO syndrome, caused by pathogenic variants in the KMT2E gene, is characterized by macrocephaly, mild intellectual disability, autism spectrum disorder susceptibility, and seizure susceptibility. This study identified 18 additional patients with genetically confirmed ODLURO, expanding the phenotypic spectrum of the disorder.

JOURNAL OF MEDICAL GENETICS (2022)

Review Genetics & Heredity

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O'Donnell-Luria

Summary: This article discusses the transformation and development of Mendelian disease genomic research, highlighting the role of the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) and their impact on the research community. In addition to data sharing and candidate gene exchange, the CMGs provide resources, tools, and training to foster understanding of genes and genome variation.

GENETICS IN MEDICINE (2022)

Article Genetics & Heredity

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Daniel Natera-de Benito, Julie A. Jurgens, Alison Yeung, Irina T. Zaharieva, Adnan Manzur, Stephanie P. DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J. Barry, Wai-Man Chan, James E. Elder, John Christodoulou, Eleanor Hay, Eleina M. England, Pinki Munot, David G. Hunter, Lucy Feng, Danielle Ledoux, Anne O'Donnell-Luria, Rahul Phadke, Elizabeth C. Engle, Anna Sarkozy, Francesco Muntoni

Summary: This study describes five patients with recessive missense and splice site variants in the COL25A1 gene, presenting with a recognizable phenotype characterized by arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation. The clinical features of the older patients remained stable over time, without involvement of the central nervous system. This research extends the phenotypic and genotypic spectrum of COL25A1 related conditions and contributes to our understanding of the complex process of intramuscular motor innervation.

HUMAN MUTATION (2022)

Review Genetics & Heredity

Variant interpretation using population databases: Lessons from gnomAD

Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A. Watts, William Phu, Julia K. Goodrich, Matthew Solomonson, Heidi L. Rehm, Daniel G. MacArthur, Anne O'Donnell-Luria

Summary: Reference population databases are crucial for variant and gene interpretation, aiding in identifying pathogenic variants and discovering new disease-gene relationships. The Genome Aggregation Database is currently the largest and most widely utilized collection of population variation, accessible through the gnomAD browser for rapid and intuitive variant analysis.

HUMAN MUTATION (2022)

Article Genetics & Heredity

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Yoel Gofin, Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian, Casie Genetti, Pankaj B. Agrawal, Jonathan Picker, Monica H. Wojcik, Mauricio R. Delgado, Sally A. Lynch, Stephen W. Scherer, Jennifer L. Howe, Carlos A. Bacino, Stephanie DiTroia, Grace E. VanNoy, Anne O'Donnell-Luria, Seema R. Lalani, William D. Graf, Jill A. Rosenfeld, Evan E. Eichler, Rachel K. Earl, Daryl A. Scott

Summary: Research shows that variations in the PAX5 gene may be associated with neurodevelopmental disorders such as autism spectrum disorder, with common phenotypes including developmental delay, intellectual disability, and autism.

HUMAN MUTATION (2022)

Article Genetics & Heredity

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

Thomas Cloney, Lyndon Gallacher, Lynn S. Pais, Natalie B. Tan, Alison Yeung, Zornitza Stark, Natasha J. Brown, George McGillivray, Martin B. Delatycki, Michelle G. de Silva, Lilian Downie, Chloe A. Stutterd, Justine Elliott, Alison G. Compton, Alysia Lovgren, Ralph Oertel, David Francis, Katrina M. Bell, Simon Sadedin, Sze Chern Lim, Guy Helman, Cas Simons, Daniel G. Macarthur, David R. Thorburn, Anne H. O'Donnell-Luria, John Christodoulou, Susan M. White, Tiong Yang Tan

Summary: This study shared the lessons learned from the first three years of the Undiagnosed Diseases Program in Victoria, Australia, highlighting the importance of flexible implementation of multiple strategies, utilizing family-based exome sequencing, and international data sharing strategies to improve diagnostic outcomes for individuals with rare diseases.

JOURNAL OF MEDICAL GENETICS (2022)

Article Clinical Neurology

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Maya Chopra, Dustin L. Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi-Fakhari, Abbe Lai, Anne O'Donnell-Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

Summary: Whole exome sequencing revealed a high prevalence of Mendelian disorders in individuals clinically diagnosed with CP.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2022)

Article Genetics & Heredity

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, Ana Beleza Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O'Donnell-Luria, Catherine Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita S. Saenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia A. L. Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke Verbeek, Jiddeke M. van de Kamp, Janneke M. M. Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange-Line Bruel, Arthur Sorlin, Mary Willis, Zoe Powis, Thomas Smol, Catherine Vincent-Delorme, Diana Baralle, Estelle Colin, Nicole Revencu, Eduardo Calpena, Andrew O. M. Wilkie, Maya Chopra, Valerie Cormier-Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Alessandra Terracciano, Nicola Specchio, Marco Tartaglia, Marlene Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, Gijs van Haaften

Summary: This study reports a cohort of individuals with de novo missense variants in six H4 genes, which are associated with neurodevelopmental features such as intellectual disability and developmental delay. Functional consequences of these variants were confirmed in zebrafish embryos.

AMERICAN JOURNAL OF HUMAN GENETICS (2022)

Article Neurosciences

Contribution of Age, Brain Region, Mood Disorder Pathology, and Interindividual Factors on the Methylome of Human Microglia

Lot D. de Witte, Zhaoyu Wang, Gijsje L. J. L. Snijders, Natalia Mendelev, Qingkun Liu, Marjolein A. M. Sneeboer, Marco P. M. Boks, Yongchao Ge, Fatemeh Haghighi

Summary: Transcriptome studies have revealed age-, disease-, and region-associated microglial phenotypes reflecting changes in microglial function during development, aging, central nervous system homeostasis, and pathology. The aim of this study was to characterize the DNA methylation landscape of human microglia and the factors that contribute to variations in the microglia methylome. We found that human microglial cells have a methylation profile distinct from bulk brain tissue and neurons, and age explained a considerable part of the variation. Additionally, we showed that interindividual factors had a much larger effect on the methylation landscape of microglia than brain region, which was also seen at the transcriptome level. In our exploratory analysis, we found various differentially methylated regions that were related to disease status (mood disorder vs. control).

BIOLOGICAL PSYCHIATRY (2022)

Review Genetics & Heredity

Interpreting variants in genes affected by clonal hematopoiesis in population data

Sanna Gudmundsson, Colleen M. Carlston, Anne O'Donnell-Luria

Summary: Reference population databases such as gnomAD have improved our ability to interpret the human genome, but clonal hematopoiesis (CH) poses challenges in variant interpretation. Somatic variants associated with CH can affect variant frequencies and downstream filtering. Filtering variants or genes associated with CH may inadvertently exclude true germline variants and cause Mendelian conditions. Here, we provide insights and recommendations for interpreting population variant data in genes affected by CH, specifically focusing on 36 established CH genes associated with neurodevelopmental conditions.

HUMAN GENETICS (2023)

Article Biochemistry & Molecular Biology

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong T. Ha, Karin S. Kassahn, Lynn S. Pais, Anne O'Donnell-Luria, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David M. Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, T. Yee Khong, Lynette Moore, Jan E. Liebelt, Andreas W. Schreiber, Sarah L. King-Smith, Tristan S. E. Hardy, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Francois Aguet, Harindra M. Arachchi, Christina A. Austin-Tse, Larry Babb, Samantha M. Baxter, Harrison Brand, Alicia B. Byrne, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl Cummings, Kayla Delano, Stephanie P. DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack Fu, Vijay S. Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian E. Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin K. Nguyen, Emily O'Heir, Melanie C. O'Leary, Ikeoluwa A. Osei-Owusu, Lynn S. Pais, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Heidi L. Rehm, Milan Serrano, Moriel Singer-Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael Talkowski, Grace Tiao, Miriam S. Udler, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Disna Abeysuriya, Lesley C. Ades, David J. Amor, Susan Arbuckle, Madhura Bakshi, Christopher P. Barnete, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara Chung, Jonathan Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra Cooper, Mark A. Corbett, Jane E. Dahlstrom, Peter Dargaville, Janene Davies, Tenielle Davis, Jarrad Dearman, Jayanthi Dissanayake, Julia Dobbins, Helen Doyle, Andrew Dubowsky, Matt Edwards, Lisa J. Ewans, Mitali Fadia, Andrew Fennell, Ken Finlay, Andrew French, Kathryn Friend, Alison E. Gardner, Jozef Gecz, Nicole Graf, Eric A. Haan, Georgina Hollingsworth, Ari E. Horton, Denise Howting, Matthew F. Hunter, Gareth Jevon, Benjamin Kamien, Debra Kennedy, T. Yee Khong, Michael Krivanek, Thessa Kroes, Emma Krzesinski, Edward Kwan, Stephanie Lau, Shannon LeBlanc, Jan Liebelt, Suzanna Lindsey-Temple, Jill Lipsett, Christine K. C. Loo, Julia Low, Amali Mallawaarachchi, Nick Manton, Admire Matsika, Tessa Mattiske, Julie McGaughran, George McGillivray, Lesley McGregor, Fiona McKenzie, Namita Mittal, Ali Moghimi, Lynette Moore, Hatice Mutlu Albayrak, Jessica Ng, Jillian Nicholl, Nicholas Pachter, John Papadimitriou, Renae Parker, Sarah Parsons, Chirag Patel, Rhonda Pawlowski, Luis A. Perez-Jurado, Jason R. Pinner, Katerina Politis, Cathryn Poulton, Theresa Power, Michael Quinn, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Steuart Rorke, Rani Sachdev, Suzanne Sallevelt, Sarah A. Sandaradura, Maryam Shamassi, Roshan Shamon, Isabella Sherburn, Ennie Slee, Annalisa Solinas, Ella Sugo, Elizabeth Thompson, Sagarika Tripathy, Anand Vasudevan, Melisa Vazquez, Kunal Verma, Mthulisi Viki, Mathew Wallis, Dani L. Webber, Martin Weber, Karen Whale, Meredith Wilson, Lisa Worgan, Sui Yu

Summary: We evaluated 'genomic autopsy' as an adjunct to standard autopsy for families who experienced fetal or newborn death. The study provided genetic diagnoses for 105 families, revealing severe atypical in utero presentations of known genetic disorders and identifying novel phenotypes and disease genes. Our findings emphasize the clinical importance of genomic investigations in pregnancy loss and perinatal death, highlighting the potential for accurate counseling in future pregnancies.

NATURE MEDICINE (2023)

Letter Cardiac & Cardiovascular Systems

National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians

Jennifer L. Hall, Sally Honeycutt, Nicole Gonzalez, Anne O'Donnell-Luria, Casey Overby Taylor, Laura Stevens, Anthony A. Philippakis, Michael C. Schatz

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2023)

Correction Biochemistry & Molecular Biology

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death ( jan, pg - 180 ,2023)

Alicia B. Byrne, Peer Arts, Thuong T. Ha, Karin S. Kassahn, Lynn S. Paris, Anne O'Donnell-Luria, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David M. Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Hung Nguyen, George McGillivray, Jason Pinner, Fiona McKenzie, Rebecca Morrow, Jill Lipsett, Nick Manton, T. Yee Khong, Lynette Moore, Jan E. Liebelt, Andreas W. Schreiber, Sarah L. King-Smith, Tristan S. E. Hardy, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott, Broad Inst Ctr Mendelian Genomics, Genomic Autopsy Study Res Network

NATURE MEDICINE (2023)

Article Multidisciplinary Sciences

Optimization of the Omni-ATAC protocol to chromatin accessibility profiling in snap-frozen rat adipose and muscle tissues

Venugopalan D. Nair, Mital Vasoya, Vishnu Nair, Gregory R. Smith, Hanna Pincas, Yongchao Ge, Collin M. Douglas, Karyn A. Esser, Stuart C. Sealfon

Summary: In this study, a modified Omni-ATAC protocol was developed for chromatin accessibility analysis in rat adipose and muscle tissues, achieving high data reproducibility. The improved technique allows for rapid analysis of frozen rat tissues and provides improved data quality compared to the original Omni-ATAC protocol.

METHODSX (2022)

暂无数据