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Transcription phenotypes of pancreatic cancer are driven by genomic events during tumor evolution (vol 33, pg 568, 2020)

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NATURE GENETICS 2020年第4期52卷 463-463页

作者： Chan-Seng-Yue, Michelle Kim, Jaeseung C. Wilson, Gavin W. Ng, Karen Figueroa, Eugenia Flores O'Kane, Grainne M. Connor, Ashton A. Denroche, Robert E. Grant, Robert C. McLeod, Jessica Wilson, Julie M. Jang, Gun Ho Zhang, Amy Liang, Sheng-Ben Borgida, Ayelet Chadwick, Dianne Kalimuthu, Sangeetha Lungu, Ilinca Bartlett, John M. S. Krzyzanowski, Paul M. Sandhu, Vandana Tiriac, Herve Froeling, Fieke E. M. Karasinska, Joanna M. Topham, James T. Renouf, Daniel J. Schaeffer, David F. Jones, Steven J. M. Marra, Marco A. Laskin, Janessa Chetty, Runjan Stein, Lincoln D. Zogopoulos, George Haibe-Kains, Benjamin Campbell, Peter J. Tuveson, David A. Knox, Jennifer J. Fischer, Sandra E. Gallinger, Steven Notta, Faiyaz Princess Margaret Cancer Centre Toronto Ontario Canada PanCuRx Translational Research Initiative Ontario Institute for Cancer Research Toronto Ontario Canada Genomics Technology Program Ontario Institute for Cancer Research Toronto Ontario Canada Wallace McCain Centre for Pancreatic Cancer Department of Medical Oncology Princess Margaret Centre University Health Network University of Toronto Toronto Ontario Canada Hepatobiliary/Pancreatic Surgical Oncology Program University Health Network Toronto Ontario Canada UHN Program in BioSpecimen Sciences University Health Network Toronto Ontario Canada Lunenfeld-Tanenbaum Research Institute Mount Sinai Hospital Toronto Ontario Canada Department of Pathology University Health Network and University of Toronto Toronto Ontario Canada Diagnostic Development Ontario Institute for Cancer Research Toronto Ontario Canada Cold Spring Harbor Laboratory Cold Spring Harbor NY USA Lustgarten Foundation Pancreatic Cancer Research Laboratory Cold Spring Harbor NY USA Department of Surgery and Cancer Imperial College London London UK Pancreas Centre BC Vancouver British Columbia Canada Department of Medical Oncology BC Cancer Vancouver British Columbia Canada Department of Pathology and Laboratory Medicine Vancouver General Hospital Vancouver British Columbia Canada Canada’s Michael Smith Genome Sciences Centre Vancouver British Columbia Canada Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada Bioinformatics Ontario Institute for Cancer Research Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Research Institute of the McGill University Health Centre Montreal Quebec Canada The Goodman Cancer Research Centre of McGill University Montreal Quebec Canada Department of Medical Biophysics University of Toronto Toronto Ontario Canada Department of Computer Science University of Toronto Toronto Ontario Canada Can

Pancreatic adenocarcinoma presents as a spectrum of a highly aggressive disease in patients. The basis of this disease heterogeneity has proved difficult to resolve due to poor tumor cellularity and extensive genomic instability. To address this, a dataset of whole genomes and transcriptomes was generated from purified epithelium of primary and metastatic tumors. Transcriptome analysis demonstrated that molecular subtypes are a product of a gene expression continuum driven by a mixture of intratumoral subpopulations, which was confirmed by single-cell analysis. Integrated whole-genome analysis uncovered that molecular subtypes are linked to specific copy number aberrations in genes such as mutant KRAS and GATA6. By mapping tumor genetic histories, tetraploidization emerged as a key mutational process behind these events. Taken together, these data support the premise that the constellation of genomic aberrations in the tumor gives rise to the molecular subtype, and that disease heterogeneity is due to ongoing genomic instability during progression.

关键词： Pancreatic cancer Transcriptomics

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Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis

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Clinical Immunology 2024年 269卷 110381-110381页

作者： Liu, Ting-Yuan Lin, Min-Rou Lu, Hsing-Fang Chen, Yu-Chia Lin, Hui-Ju Chou, Wan-Hsuan Wei, Chun-Yu Palupi, Poppy Diah Liao, Chi-Chou Chang, Yen-Ting Chang, Wei-Chiao Tsai, Fuu-Jen Department of Medical Research China Medical University Hospital China Medical University Taichung 40447 Taiwan Department of Clinical Pharmacy School of Pharmacy Taipei Medical University Taipei 110 Taiwan Department of Ophthalmology Eye Center China Medical University Hospital Taichung 40447 Taiwan Master Program in Clinical Genomics and Proteomics School of Pharmacy Taipei Medical University Taipei 110 Taiwan Core Laboratory of Neoantigen Analysis for Personalized Cancer Vaccine Office of R&D Taipei Medical University Taipei 110 Taiwan Integrative Research Center in Critical Care Wanfang Hospital Taipei Medical University Taipei 116 Taiwan Department of Pharmacy Wan Fang Hospital Taipei Medical University Taipei 110 Taiwan Department of Pharmacology National Defense Medical Center Taipei 110 Taiwan Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan School of Chinese Medicine China Medical University Taichung 40402 Taiwan Division of Pediatric Medical Genetics Children's Hospital of China Medical University Taichung 40447 Taiwan Department of Biotechnology and Bioinformatics Asia University Taichung 41354 Taiwan

Background: Sjögren's syndrome (SS) is an autoimmune disorder that primarily affects the exocrine glands, leading to dryness of mucous membranes and systemic manifestations. This study aimed to identify genetic markers associated with primary SS (pSS) in the Taiwan Han population through a hospital-based genome-wide association study (GWAS) and polygenic risk score (PRS) analysis, addressing the lack of genetic research. Results: This study included 11,390 patients diagnosed with pSS and 113,900 controls. GWAS identified one known locus and eight novel loci. Known HLA alleles, including HLA-DRB1*15:01 and HLA-DQA1*03:01, were successfully replicated in a consistent effect direction. PRS analysis revealed that several autoimmune diseases share similar genetic backgrounds with pSS, including rheumatoid arthritis and systemic lupus erythematosus. Conclusion: This study represents the largest cohort to date on the genetics of pSS in the Taiwan Han population. Our findings provide valuable insights into the pathogenesis of pSS and emphasize the comorbidities associated with it as an autoimmune disease. © 2024

关键词： Gene polymorphism Genome-wide association study (GWAS) Human leukocyte antigen (HLA) Phenome-wide association study (PheWAS) Polygenic risk score (PRS) Sjögren's syndrome

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Structural basis and synergism of ATP and Na⁺ activation in bacterial K⁺ uptake system KtrAB

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Nature Communications 2024年第1期15卷 3850页

作者： Chiang, Wesley Tien Chang, Yao-Kai Hui, Wei-Han Chang, Shu-Wei Liao, Chen-Yi Chang, Yi-Chuan Chen, Chun-Jung Wang, Wei-Chen Lai, Chien-Chen Wang, Chun-Hsiung Luo, Siou-Ying Huang, Ya-Ping Chou, Shan-Ho Horng, Tzyy-Leng Hou, Ming-Hon Muench, Stephen P. Chen, Ren-Shiang Tsai, Ming-Daw Hu, Nien-Jen Graduate Institute of Biochemistry National Chung Hsing University Taichung 402202 Taiwan Institute of Biological Chemistry Academia Sinica Taipei 115201 Taiwan Department of Civil Engineering National Taiwan University Taipei 106319 Taiwan Department of Biomedical Engineering National Taiwan University Taipei 10663 Taiwan Life Science Group Scientific Research Division National Synchrotron Radiation Research Center Hsinchu 30092 Taiwan Institute of Molecular Biology National Chung Hsing University Taichung 402202 Taiwan Graduate Institute of Chinese Medical Science China Medical University Taichung 406040 Taiwan Department of Applied Mathematics Feng Chia University Taichung 407102 Taiwan Institute of Genomics and Bioinformatics National Chung Hsing University Taichung 402202 Taiwan School of Biomedical Sciences Faculty of Biological Sciences and the Astbury Centre for Structural Molecular Biology University of Leeds Leeds LS2 9JT United Kingdom Department of Life Science Tunghai University Taichung 407224 Taiwan Institute of Biochemical Sciences National Taiwan University Taipei 106319 Taiwan Ph.D Program in Translational Medicine National Chung Hsing University Taichung 402202 Taiwan

The K+ uptake system KtrAB is essential for bacterial survival in low K+ environments. The activity of KtrAB is regulated by nucleotides and Na+. Previous studies proposed a putative gating mechanism of KtrB regulated...

The K⁺ uptake system KtrAB is essential for bacterial survival in low K⁺ environments. The activity of KtrAB is regulated by nucleotides and Na⁺. Previous studies proposed a putative gating mechanism of KtrB regulated by KtrA upon binding to ATP or ADP. However, how Na⁺ activates KtrAB and the Na⁺ binding site remain unknown. Here we present the cryo-EM structures of ATP- and ADP-bound KtrAB from Bacillus subtilis (BsKtrAB) both solved at 2.8 Å. A cryo-EM density at the intra-dimer interface of ATP-KtrA was identified as Na⁺, as supported by X-ray crystallography and ICP-MS. Thermostability assays and functional studies demonstrated that Na⁺ binding stabilizes the ATP-bound BsKtrAB complex and enhances its K⁺ flux activity. Comparing ATP- and ADP-BsKtrAB structures suggests that BsKtrB Arg417 and Phe91 serve as a channel gate. The synergism of ATP and Na⁺ in activating BsKtrAB is likely applicable to Na⁺-activated K⁺ channels in central nervous system. © The Author(s) 2024.

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705P Circulating miRNA biomarkers predicting regorafenib (REG) clinical benefit in patients with hepatocellular carcinoma (HCC) in the RESORCE trial

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Annals of Oncology 2017年第SUPPL_5期28卷

作者： M. Teufel H. Seidel K. Köchert G. Meinhardt R.S. Finn J.M. Llovet J. Bruix Translational Medicine Oncology Bayer HealthCare Pharmaceuticals Whippany NJ USA Bioinformatics Bayer AG Berlin Germany Genomics and Biomarker Statistics Bayer AG Berlin Germany Clinical Development Oncology Bayer HealthCare Pharmaceuticals Whippany NJ USA Division of Hematology/Oncology David Geffen School of Medicine at UCLA Los Angeles CA USA BCLC Group Liver Unit Hospital Clinic University of Barcelona IDIBAPS CIBEREHD Barcelona Spain Liver Cancer Program Division of Liver Diseases Icahn School of Medicine at Mount Sinai New York NY USA Institució Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain

705P Circulating miRNA biomarkers predicting regorafenib (REG) clinical benefit in patients with hepatocellular carcinoma (HCC) in the RESORCE trial M. Teufel Translational Medicine Oncology, Bayer HealthCare Pharmaceuticals, Whippany, NJ, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar M. Teufel H. Seidel bioinformatics, Bayer AG, Berlin, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar H. Seidel K. Köchert genomics and Biomarker Statistics, Bayer AG, Berlin, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar K. Köchert G. Meinhardt Clinical Development Oncology, Bayer HealthCare Pharmaceuticals, Whippany, NJ, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar G. Meinhardt R.S. Finn Division of Hematology/Oncology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar R.S. Finn J.M. Llovet BCLC Group, Liver Unit, Hospital Clinic, University of Barcelona, IDIBAPS, CIBEREHD, Barcelona, Spain Liver Cancer program, Division of Liver Diseases, Icahn School of Medicine at Mount Sinai, New York, NY, USA Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain Search for other works by this author on: Oxford Academic PubMed Google Scholar J.M. Llovet J. Bruix BCLC Group, Liver Unit, Hospital Clinic, University of Barcelona, IDIBAPS, CIBEREHD, Barcelona, Spain Search for other works by this author on: Oxford Academic PubMed Google Scholar J. Bruix Annals of Oncology, Volume 28, Issue suppl_5, 1 September 2017, mdx369.089, https://***/10.1093/annonc/mdx369.089 Published: 18 September 2017

关键词： biological markers carcinoma, hepatocellular

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Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

Research Square

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Research Square 2021年

作者： Zhang, Martin Jinye Hou, Kangcheng Pasaniuc, Bogdan Price, Alkes L. Dey, Kushal K. Jagadeesh, Karthik A. Weinand, Kathryn Sakaue, Saori Taychameekiatchai, Aris Rao, Poorvi Pisco, Angela Oliveira Zou, James Wang, Bruce Gandal, Michael Raychaudhuri, Soumya Harvard University United States Osaka University Japan Department of Epidemiology Harvard T.H. Chan School of Public Health BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard CambridgeMA United States Bioinformatics Interdepartmental Program University of California Los Angeles Los AngelesCA United States Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Department of Computational Medicine David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Center for Data Sciences Brigham and Women’s Hospital BostonMA United States Division of Genetics Department of Medicine Brigham and Women’s Hospital Harvard Medical School BostonMA United States Division of Rheumatology Inflammation and Immunity Department of Medicine Brigham and Women’s Hospital Harvard Medical School BostonMA United States Department of Biomedical Informatics Harvard Medical School BostonMA United States Department of Medicine and Liver Center University of California San Francisco San FranciscoCA United States Developmental and Stem Cell Biology Graduate Program University of California San Francisco San FranciscoCA United States Chan Zuckerberg Biohub San FranciscoCA United States Department of Electrical Engineering Stanford University Palo AltoCA United States Department of Biomedical Data Science Stanford University Palo AltoCA United States Department of Psychiatry David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Program in Neurobehavioral Genetics Semel Institute David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Versus Arthritis Centre for Genetics and Genomic

Gene expression at the individual cell-level resolution, as quantified by single-cell RNA-sequencing (scRNA-seq), can provide unique insights into the pathology and cellular origin of diseases and complex traits. Here, we introduce single-cell Disease Relevance Score (scDRS), an approach that links scRNA-seq with polygenic risk of disease at individual cell resolution;scDRS identifies individual cells that show excess expression levels for genes in a disease-specific gene set constructed from GWAS data. We determined via simulations that scDRS is well-calibrated and powerful in identifying individual cells associated to disease. We applied scDRS to GWAS data from 74 diseases and complex traits (average N =341K) in conjunction with 16 scRNA-seq data sets spanning 1.3 million cells from 31 tissues and organs. At the cell type level, scDRS broadly recapitulated known links between classical cell types and disease, and also produced novel biologically plausible findings. At the individual cell level, scDRS identified subpopulations of disease-associated cells that are not captured by existing cell type labels, including subpopulations of CD4+ T cells associated with inflammatory bowel disease, partially characterized by their effector-like states;subpopulations of hippocampal CA1 pyramidal neurons associated with schizophrenia, partially characterized by their spatial location at the proximal part of the hippocampal CA1 region;and subpopulations of hepatocytes associated with triglyceride levels, partially characterized by their higher ploidy levels. At the gene level, we determined that genes whose expression across individual cells was correlated with the scDRS score (thus reflecting co-expression with GWAS disease genes) were strongly enriched for gold-standard drug target and Mendelian disease genes. © 2021, CC BY.

关键词： RNA

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1024-LBP

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Human Immunology 2014年第6期75卷 491-491页

作者： Halagan, Michael Hollenbach, Jill A. Madbouly, Abeer Gragert, Loren Vierra-Green, Cynthia Flesch, Susan Spellman, Stephen R. Begovich, Ann Noreen, Harriet Trachtenberg, Elizabeth Williams, Thomas M. Yu, Neng Zannelli, Georgia Fernandez-Vina, Marcelo Maiers, Martin Bioinformatics Research National Marrow Donor Program Minneapolis MN 55413 United States Noble Lab Children’s Hospital Oakland Research Institute Oakland CA United States Immunobiology & Observational Research Center for International Blood and Marrow Transplant Research Minneapolis MN 55413 United States Genomics & Oncology Roche Diagnostics Pleasanton CA United States Laboratory Medicine and Pathology Fairview Hospital Fairview MN United States Department of Pathology University of New Mexico Albuquerque MN United States Blood Services American Red Cross Dedham MA United States Department of Pathology Stanford University School of Medicine Palo Alto CA United States

Aim Recent data show that DP matching plays an important role in hematopoietic cell transplantation. Our previous work demonstrated that in European Americans haplotypic associations for the DP heterodimer are dete rmined by near complete linkage disequilibrium between amino acid motifs on DPA1 (pos 31) and DPB1 (pos 85–87). We aimed to generate motif and allele-level haplotype frequencies (HF) for four race groups to extend these insights to minorities. Methods We calculated DPA1∼DPB1 HF at allele and motif level from 16,802 Be the Match Registry® members typed by DNA methods, resolving phase, allelic and motif ambiguity using expectation maximization. Motif frequencies were calculated for position 31 on DPA1 and positions 85–87 on DPB1, which play a critical role in the P1 pocket of the peptide binding region. Normalized linkage disequilibrium (LD) was calculated on each haplotype (D′) and globally (Wn) for each population. Results The top three allele-level haplotypes in all populations account for over 66% of the HF, with DPA1∗ 01:03 ∼ DPB1∗ 04:01 most common in the Caucasian (CAU), Asian Pacific Islander (API) and Hispanic (HIS) populations and DPA1∗ 02:02 ∼ DPB1∗ 01:01 in the African American (AFA) population. Wn for DPA1∼DPB1 allele associations for CAU, HIS, API, and AFA populations was .55, .45, .49, and .52 respectively. At the motif level there were only four possible haplotypes. M ∼ GPM and Q ∼ EAV were the two most common in every population. M ∼ GPM was the most common in CAU, HIS and API with frequencies 69%, 68% and 56% respectively, with D′ = 0.97 for CAU (complete LD). The most common haplotype for AFA was Q ∼ EAV, at 48% and D′ = .99. Conclusions Low global LD was observed at the allele level for all populations. However, at the motif level haplotypes were in near complete LD suggesting that for the DPA1 ∼ DPB1 heterodimer the unit of selection for all populations is the combined amino acid motif rather than the allele, as previously observed in E

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Clinical Features and Outcomes of Primary Breast Diffuse Large B-Cell Lymphoma: A Matched-Pair Study

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Clinical Medicine Insights: Oncology 2023年 17卷

作者： Teng, Ling-Chiao Liao, Yu-Min Gau, Jyh-Pyng Hsiao, Tzu-Hung Chen, Tsung-Chih Chen, Mei-Hui Yeh, Su-Peng Teng, Chieh-Lin Jerry Division of Hematology/Medical Oncology Department of Medicine Taichung Veterans General Hospital Taichung Taiwan Department of Hematology and Oncology China Medical University Hospital Taichung Taiwan Division of Hematology and Oncology Department of Medicine Taipei Medical University Hospital Taipei City Taiwan Department of Medical Research Taichung Veterans General Hospital Taichung Taiwan Department of Chemical Engineering National Tsing Hua University Hsinchu Taiwan Department of Public Health Fu Jen Catholic University New Taipei City Taiwan Institute of Genomics and Bioinformatics National Chung Hsing University Taichung Taiwan Department of Nursing Taichung Veterans General Hospital Taichung Taiwan College of Nursing Hung Kuang University Taichung Taiwan School of Medicine China Medical University Taichung Taiwan Department of Post-Baccalaureate Medicine College of Medicine National Chung Hsing University Taichung Taiwan Department of Life Science Tunghai University Taichung Taiwan School of Medicine Chung Shan Medical University Taichung Taiwan Ph.D. Program in Translational Medicine National Chung Hsing University Taichung Taiwan Rong Hsing Research Center for Translational Medicine National Chung Hsing University Taichung Taiwan

Background: The influence of the breast as the primary site on the outcome of diffuse large B-cell lymphoma (DLBCL) and further changes in therapeutic strategies remain unclear. We aimed to compare the outcomes between primary breast and non-breast DLBCL and analyze the genetic profiles of some of the study cohorts using next-generation sequencing. Methods: This matched-pair study reviewed the medical records of 19 patients with stage I and II primary breast DLBCL diagnosed between January 2005 and December 2021 on the basis of the Wiseman and Liao criteria, and we used 1:4 propensity score matching to identify patients with non-breast DLBCL as the control group. The overall response rate, progression-free survival (PFS), and overall survival (OS) were the outcome measures. Results: Patients with primary breast and non-breast DLBCL had a 5-year PFS of 72.6% and 86.9%, respectively (P =.206). These 2 groups also had comparable 5-year OS (86.9% vs 87.8%;P =.772). The breast as the primary site was not associated with inferior PFS (hazard ratio [HR]: 2.14;95% CI: 0.66-6.96;P =.206) and OS (HR: 1.26;95% CI: 0.27-5.93;P =.772). Conclusion: Patients with primary breast DLBCL and those with non-breast DLBCL had comparable PFS and OS under rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) or R-CHOP-like regimens. Further investigations of the mutation profile, its clinical impact, potential central nervous system relapse, and prognosis of primary breast DLBCL are required. © The Author(s) 2023.

关键词： breast DLBCL NGS OS PFS

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The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

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SCIENCE 2009年第5926期324卷 522-528页

作者： Elsik, Christine G. Tellam, Ross L. Worley, Kim C. Gibbs, Richard A. Abatepaulo, Antonio R. R. Abbey, Colette A. Adelson, David L. Aerts, Jan Ahola, Virpi Alexander, Lee Alioto, Tyler Almeida, Iassudara G. Amadio, Ariel F. Anatriello, Elen Antonarakis, Stylianos E. Anzola, Juan M. Astashyn, Alex Bahadue, Suria M. Baldwin, Cynthia L. Barris, Wes Baxter, Rebecca Bell, Stephanie Nicole Bennett, Anna K. Bennett, Gary L. Biase, Fernando H. Boldt, Clayton R. Bradley, Daniel G. Brinkman, Fiona S. L. Brinkmeyer-Langford, Candice L. Brown, Wendy C. Brownstein, Michael J. Buhay, Christian Caetano, Alexandre R. Camara, Francisco Carroll, Jeffrey A. Carvalho, Wanessa A. Casey, Theresa Cervelatti, Elaine P. Chack, Joseph Chacko, Elsa Chandrabose, Mimi M. Chapin, Jennifer E. Chapple, Charles E. Chen, Hsiu-Chuan Chen, Lin Cheng, Ye Cheng, Ze Childers, Christopher P. Chitko-McKown, Carol G. Chiu, Readman Choi, Jungwoo Chrast, Jacqueline Colley, Adam J. Connelley, Tomothy Cree, Andy Curry, Stacey Dalrymple, Brian Diep Dao, Marvin Davis, Clay de Oliveira, Carlo J. F. de Miranda Santos, Isabel K. F. de Campos, Tatiana A. Deobald, Heather Devinoy, Eve Dickins, C. Michael Yan, Ding Dinh, Huyen H. De Donato, Marcos Donohue, Kaitlin E. Donthu, Ravikiran Dovc, Peter Dugan-Rocha, Shannon Durbin, K. James Eberlein, Annett Edgar, Robert C. Egan, Amy Eggen, Andre Eichler, Evan E. Elhaik, Eran Ellis, Shirley A. Elnitski, Laura Ermolaeva, Olga Eyras, Eduardo Fitzsimmons, Carolyn J. Fowler, Gerald R. Franzin, Alessandra M. Fritz, Krista Gabisi, Ramatu Ayiesha Garcia, Gustavo R. Garcia, Jose Fernando Genini, Sem Gerlach, Daniel German, J. Bruce Gilbert, James G. R. Gill, Clare A. Gladney, Cody J. Glass, Elizabeth J. Goodell, Jason Grant, Jason R. Graur, Dan Greaser, Marion L. Green, Jonathan A. Green, Ronnie D. Guan, Leluo Guigo, Roderic Hadsell, Darryl L. Hagen, Darren E. Hakimov, Hatam A. Halgren, Rob Hamernik, Debora L. Hamilton, Cerissa Harhay, Gregory P. Harrow, Jennifer L. Hart, Elizabeth A. Hastings, Nicola Havlak, Paul Henrichsen, Charl Georgetown Univ Dept Biol 406 Reiss37th & O St NW Washington DC 20057 USA CSIRO Livestock Ind St Lucia Qld 4067 Australia Baylor Coll Med Dept Mol & Human Genet Human Genome Sequencing Ctr Houston TX 77030 USA Washington Univ Sch Med Genome Ctr St Louis MO 63108 USA Texas A&M Univ Dept Anim Sci College Stn TX 77843 USA Univ Adelaide Sch Mol Biomed & Sci Sch Agr Food & Wine Adelaide SA 5005 Australia Univ Washington Dept Genome Sci Seattle WA 98195 USA Howard Hughes Med Inst Seattle WA 98195 USA Natl Human Genome Res Inst Natl Inst Hlth Rockville MD 20878 USA Univ Pompeu Fabra Ctr Genomic Regulation Grp Recerca Informatica Biomed Inst Municipal Invest Med E-08003 Barcelona Spain USDA Cooperative State Res Educ & Extension Serv Washington DC 20250 USA USDA Agr Res Serv Natl Program Staff Beltsville MD 20705 USA Univ Illinois Urban Champaign Dept Anim Sci Urbana IL 61801 USA Univ Illinois Urban Champaign Inst Genomic Biol Urbana IL 61801 USA Simon Fraser Univ Dept Mol Biol Biochem Burnaby BC V5A 1S6 Canada Univ Sydney Fac Vet Sci Sydney NSW 2006 Australia Univ Lausanne Ctr Integrative Genomics CH-1015 Lausanne Switzerland Baylor Coll Med Dept Pediat Nutr USDA Agr Res Serv Childrens Nutr Res Ctr Houston TX 77030 USA Texas A&M Univ Dept Vet Integrative Biosci College Stn TX 77843 USA Univ Geneva Med Sch Dept Genetic Med & Dev CH-1211 Geneva Switzerland Swiss Inst Bioinformatics CH-1211 Geneva Switzerland Imperial Coll S Kensington Campus Div Mol Biosci London SW7 2AZ England Texas A&M Univ Dept Vet Pathobiol College Stn TX 77843 USA Natl Inst Hlth Natl Lib Med Natl Ctr Biotech Information Bethesda MD 20892 USA Wellcome Trust Sanger Inst Hinxton Informatics Dept Cambridge CB10 1HH England Univ London Royal Holloway Egham Dept Comp Sci Surrey TW20 0EX England Univ Houston Dept Biol & Biochem Houston TX 77204 USA Johns Hopkins Univ Sch Med McKusick Nathans Inst Genetic Med Baltimore MD 21205 USA 45 Monterey Dr Tiburon CA 94

To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.

关键词： Alternative Splicing Animals Animals, Domestic Biological Evolution Cattle Evolution, Molecular Evolution, Molecular Female Genetic Variation Genome Humans Male MicroRNAs/genetics MicroRNAs/genetics Molecular Sequence Data Proteins/genetics Sequence Analysis, DNA Species Specificity Synteny

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Proceedings of the 16th Annual UT-KBRIN bioinformatics Summit 2016: proceedings

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BMC Proceedings 2017年第9期11卷 1-6页

作者： L. Leon Dent Sammed N. Mandape Siddharth Pratap Jianan Dong Jamaine Davis Jennifer A. Gaddy Kofi Amoah Steve Damo Dana R. Marshall Jacob Jones Toni Brandt Gilberto Diaz Qingguo Wang Todd Gary Ashwini Yenamandra Marina Z. Ghattas Marwa Elrakaiby Ramy K. Aziz Hamdallah H. Zedan Moamen Elmassry Marwa ElRakaiby Mariam Lotfy Jarrad Marcel Rania A. Khattab Maha M. Abdelfattah Jack A. Gilbert Pouya Dini Shavahn C. Loux Kirsten E. Scoggin Alejandro Esteller-Vico Edward L. Squires Mats H. T. Troedsson Barry A. Ball Peter Daels Kalpani De Silva Ernest Bailey Joel C. Stephens Theodore S. Kalbfleisch Christine E. Dolin Lauren G. Poole Gavin E. Arteel Michael L. Merchant Daniel W. Wilkey Michelle T. Barati Eric C. Rouchka Richard M. Higashi Teresa W-M Fan Hunter Moseley Andrew N Lane Department of Surgery Meharry Medical College Nashville TN 37208 USA Bioinformatics Core Meharry Medical College Nashville TN 37208 USA Department of Biochemistry and Cancer Biology Meharry Medical College Nashville TN 37208 USA Department of Medicine Vanderbilt University Medical Center Nashville TN 37232 USA Department of Life and Physical Sciences Fisk University Nashville TN 37208 USA Department of Pathology Anatomy and Cell Biology Meharry Medical College Nashville TN 37208 USA College of Computing and Technology Lipscomb University 1 University Park Drive Nashville TN 37204 USA Vanderbilt University Medical Center Nashville TN 37232 USA Office of Research Middle Tennessee State University 1301 East Main St Murfreesboro TN 37132 USA Department of Microbiology and Immunology Faculty of Pharmacy Cairo University Cairo Egypt Department of Biological Sciences Texas Tech University Lubbock TX 79409 USA Clinical Operations Department Ray-Clinical Research Organization Giza Egypt Genomic and Systems Biology Bioscience Division Argonne National Laboratory Argonne IL 60439 USA Research Institute of Ophthalmology Giza Egypt Department of Surgery University of Chicago Chicago IL 60637 USA Microbial Ecology Group Argonne National Laboratory Argonne IL 60439 USA Department of Veterinary Science University of Kentucky Lexington KY 40536 USA Department of Reproduction Faculty of Veterinary Medicine University of Gent Merelbeke Belgium Interdisciplinary Studies Program: Specialization in Bioinformatics University of Louisville Louisville KY 40292 USA Department of Veterinary Science University of Kentucky Lexington KY 40506 USA Genomics GPS Guilford CT 06437 USA Department of Biochemistry and Molecular Genetics School of Medicine University of Louisville Louisville KY 40292 USA Department of Pharmacology & Toxicology University of Louisville Louisville KY 40202 USA Department of Medicine University of Louisville

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Author Correction: Mapping disease regulatory circuits at cell-type resolution from single-cell multiomics data

Nature computational science

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Nature computational science 2023年第9期3卷 805页

作者： Xi Chen Yuan Wang Antonio Cappuccio Wan-Sze Cheng Frederique Ruf Zamojski Venugopalan D Nair Clare M Miller Aliza B Rubenstein German Nudelman Alicja Tadych Chandra L Theesfeld Alexandria Vornholt Mary-Catherine George Felicia Ruffin Michael Dagher Daniel G Chawla Alessandra Soares-Schanoski Rachel R Spurbeck Lishomwa C Ndhlovu Robert Sebra Steven H Kleinstein Andrew G Letizia Irene Ramos Vance G Fowler Christopher W Woods Elena Zaslavsky Olga G Troyanskaya Stuart C Sealfon Center for Computational Biology Flatiron Institute New York NY USA. Lewis-Sigler Institute of Integrative Genomics Princeton University Princeton NJ USA. Department of Computer Science Princeton University Princeton NJ USA. Department of Neurology Icahn School of Medicine at Mount Sinai New York NY USA. Division of Infectious Diseases Department of Medicine Duke University School of Medicine Durham NC USA. Program in Computational Biology and Bioinformatics Yale University New Haven CT USA. Battelle Memorial Institute Columbus OH USA. Division of Infectious Diseases Department of Medicine Weill Cornell Medicine New York NY USA. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA. Department of Pathology and Department of Immunobiology Yale School of Medicine New Haven CT USA. Naval Medical Research Center Silver Spring MD USA. Precision Immunology Institute Icahn School of Medicine at Mount Sinai New York NY USA. Department of Neurology Icahn School of Medicine at Mount Sinai New York NY USA. elena.zaslavsky@mssm.edu. Center for Computational Biology Flatiron Institute New York NY USA. ogt@genomics.princeton.edu. Lewis-Sigler Institute of Integrative Genomics Princeton University Princeton NJ USA. ogt@genomics.princeton.edu. Department of Computer Science Princeton University Princeton NJ USA. ogt@genomics.princeton.edu. Department of Neurology Icahn School of Medicine at Mount Sinai New York NY USA. stuart.sealfon@mssm.edu.

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