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Tytuł:
A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples.
Autorzy:
Oketch JW; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
Wain LV; Department of Population Health Sciences, University of Leicester, Leicester, United Kingdom.; National Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, United Kingdom.
Hollox EJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.
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Źródło:
PloS one [PLoS One] 2024 Apr 01; Vol. 19 (4), pp. e0300545. Date of Electronic Publication: 2024 Apr 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Microsatellite Repeats*/genetics
Humans ; Software ; Genomics ; Genotype ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fork coupling directs DNA replication elongation and termination.
Autorzy:
Liu Y; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Zhangding Z; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.
Liu X; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.
Gan T; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.; Peking University ChengDu Academy for Advanced Interdisciplinary Biotechnologies, Chengdu, Sichuan 610213, China.
Ai C; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Wu J; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Liang H; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.
Chen M; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.
Guo Y; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.
Lu R; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Jiang Y; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Ji X; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.
Gao N; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.; State Key Laboratory of Membrane Biology, School of Life Sciences, Peking University, Beijing 100871, China.
Kong D; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.; State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, China.
Li Q; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.; State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, China.
Hu J; The MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences, Genome Editing Research Center, Peking University; Beijing 100871, China.; PKU-THU Center for Life Sciences, Peking University, Beijing 100871, China.; Peking University ChengDu Academy for Advanced Interdisciplinary Biotechnologies, Chengdu, Sichuan 610213, China.
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Źródło:
Science (New York, N.Y.) [Science] 2024 Mar 15; Vol. 383 (6688), pp. 1215-1222. Date of Electronic Publication: 2024 Mar 14.
Typ publikacji:
Journal Article
MeSH Terms:
Chromatin*/chemistry
DNA*/chemistry
DNA*/genetics
DNA Replication*
Genome, Human*
Animals ; Humans ; Mice ; Protein Conformation ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
HaplotagLR: An efficient and configurable utility for haplotagging long reads.
Autorzy:
Holmes MJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Mahjour B; Department of Medicinal Chemistry, University of Michigan, Ann Arbor, Michigan, United States of America.
Castro CP; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Farnum GA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Diehl AG; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.
Boyle AP; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 13; Vol. 19 (3), pp. e0298688. Date of Electronic Publication: 2024 Mar 13 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Genomics*/methods
Genome, Human*
Humans ; Sequence Analysis, DNA/methods ; Haplotypes/genetics ; High-Throughput Nucleotide Sequencing/methods ; Algorithms
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Gbdmr: identifying differentially methylated CpG regions in the human genome via generalized beta regressions.
Autorzy:
Wu C; School of Public Health, University of Memphis, 3720 Alumni Ave, Memphis, TN, 38152, USA.
Mou X; School of Public Health, University of Memphis, 3720 Alumni Ave, Memphis, TN, 38152, USA. .
Zhang H; School of Public Health, University of Memphis, 3720 Alumni Ave, Memphis, TN, 38152, USA.
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2024 Mar 05; Vol. 25 (1), pp. 97. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Phosphates*
Humans ; Cohort Studies ; Reproducibility of Results ; Cytosine ; Guanine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization and mitigation of artifacts derived from NGS library preparation due to structure-specific sequences in the human genome.
Autorzy:
Chen H; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.; Computer Network Information Center, Chinese Academy of Sciences,, University of Chinese Academy of Sciences, Beijing, 100190, China.; WillingMed Technology Beijing Co., Ltd., Beijing, 100176, China.
Zhang Y; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Wang B; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Liao R; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Duan X; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.; ChosenMed Technology (Zhejiang) Co. Ltd., Zhejiang, 311103, China.
Yang C; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Chen J; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Hao Y; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Shu Y; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Cai L; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Leng X; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China.
Qian NS; Department of Oncology,Senior Department of Respiratory and Critical Care Medicine, The Eighth Medical Center of Chinese, PLA General Hospital, No.17A Heishanhu Road, Haidian District, Beijing, 100853, China. .
Sun D; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China. .; ChosenMed Technology (Zhejiang) Co. Ltd., Zhejiang, 311103, China. .
Niu B; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China. .; Computer Network Information Center, Chinese Academy of Sciences,, University of Chinese Academy of Sciences, Beijing, 100190, China. .; ChosenMed Technology (Zhejiang) Co. Ltd., Zhejiang, 311103, China. .
Zhou Q; Beijing ChosenMed Clinical Laboratory Company Limited, Jinghai Industrial Park, Economic and Technological Development Area, Beijing, 100176, China. .; ChosenMed Technology (Zhejiang) Co. Ltd., Zhejiang, 311103, China. .
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Źródło:
BMC genomics [BMC Genomics] 2024 Mar 01; Vol. 25 (1), pp. 227. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Artifacts*
Genome, Human*
Humans ; Gene Library ; Sequence Analysis, DNA/methods ; DNA, Neoplasm ; High-Throughput Nucleotide Sequencing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Autorzy:
Lu J; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; The Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York, NY, 10032, USA. .
Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD, 20892, USA.
Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD, 20892, USA.
Moreno CAM; Neurology Department, Universidade de São Paulo, São Paulo, SP, 05508-010, Brazil.
Lee WP; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory MedicinePerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Leung YY; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory MedicinePerelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Harms MB; Department of Neurology, Division of Neuromuscular Medicine, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Vardarajan B; The Taub Institute for Research On Alzheimer's Disease and the Aging Brain, Gertrude H. Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York, NY, 10032, USA.
Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA. .
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Corporate Authors:
Undiagnosed Diseases Network
Źródło:
BMC genomics [BMC Genomics] 2024 Jan 26; Vol. 25 (1), pp. 115. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Microsatellite Repeats*/genetics
Humans ; Germ Cells ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach.
Autorzy:
Liu Y; Department of Hepatobiliary and Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 311121, China.; Liangzhu Laboratory, Zhejiang University, 1369 West Wenyi Road, Hangzhou, 311121, China.; College of Computer Science, Zhejiang University, Yuquan Campus, Zhejiang University, Rd Zheda 38, Xihu District, Hangzhou, 310007, China.
Zhang T; Department of Hepatobiliary and Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 311121, China.; Liangzhu Laboratory, Zhejiang University, 1369 West Wenyi Road, Hangzhou, 311121, China.
You N; Department of Hepatobiliary and Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 311121, China.; Liangzhu Laboratory, Zhejiang University, 1369 West Wenyi Road, Hangzhou, 311121, China.
Wu S; Liangzhu Laboratory, Zhejiang University, 1369 West Wenyi Road, Hangzhou, 311121, China. .; College of Computer Science, Zhejiang University, Yuquan Campus, Zhejiang University, Rd Zheda 38, Xihu District, Hangzhou, 310007, China. .
Shen N; Department of Hepatobiliary and Pancreatic Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 311121, China. .; Liangzhu Laboratory, Zhejiang University, 1369 West Wenyi Road, Hangzhou, 311121, China. .
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Źródło:
Genome medicine [Genome Med] 2024 Jan 08; Vol. 16 (1), pp. 3. Date of Electronic Publication: 2024 Jan 08.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Machine Learning*
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.
Autorzy:
Hinch R; Big Data Institute, University of Oxford, Oxford, UK.
Donnelly P; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; Genomics plc, Oxford, UK.
Hinch AG; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Dec; Vol. 382 (6674), pp. eadh2531. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Breaks, Double-Stranded*
DNA Repair*
Genome, Human*
Meiosis*/genetics
Mutagenesis*
Recombination, Genetic*
Humans ; Male ; Mutation ; Ovum/metabolism ; Semen/metabolism ; Translesion DNA Synthesis ; Female
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation hotspots during meiosis.
Autorzy:
Baudat F; Institut de Génétique Humaine, Université de Montpellier, Centre National de la Recherche Scientifique, Montpellier, France.
de Massy B; Institut de Génétique Humaine, Université de Montpellier, Centre National de la Recherche Scientifique, Montpellier, France.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Dec; Vol. 382 (6674), pp. 997-998. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Journal Article
MeSH Terms:
Homologous Recombination*
Meiosis*/genetics
Genome, Human*
Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Global analysis of suppressor mutations that rescue human genetic defects.
Autorzy:
Ünlü B; Center for Integrative Genomics, University of Lausanne, Génopode Building, 1015, Lausanne, Switzerland.
Pons C; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute for Science and Technology, Barcelona, Spain.
Ho UL; Center for Integrative Genomics, University of Lausanne, Génopode Building, 1015, Lausanne, Switzerland.
Batté A; Center for Integrative Genomics, University of Lausanne, Génopode Building, 1015, Lausanne, Switzerland.
Aloy P; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute for Science and Technology, Barcelona, Spain.; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
van Leeuwen J; Center for Integrative Genomics, University of Lausanne, Génopode Building, 1015, Lausanne, Switzerland. .
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Źródło:
Genome medicine [Genome Med] 2023 Oct 12; Vol. 15 (1), pp. 78. Date of Electronic Publication: 2023 Oct 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Suppression, Genetic*
Genome, Human*
Humans ; Mutation ; Models, Biological ; Human Genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Concerning the eXclusion in human genomics: the choice of sex chromosome representation in the human genome drastically affects the number of identified variants.
Autorzy:
Pinto BJ; School of Life Sciences, Arizona State University, Tempe, AZ 85282, USA.; Center for Evolution and Medicine, Arizona State University, Tempe, AZ 85282, USA.; Department of Zoology, Milwaukee Public Museum, Milwaukee, WI 53233, USA.
O'Connor B; Sage Bionetworks, Seattle, WA 98121, USA.
Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, MD 21218, USA.
Zarate S; Department of Computer Science, Johns Hopkins University, Baltimore, MD 21218, USA.
Wilson MA; School of Life Sciences, Arizona State University, Tempe, AZ 85282, USA.; Center for Evolution and Medicine, Arizona State University, Tempe, AZ 85282, USA.; The Biodesign Center for Mechanisms of Evolution, Arizona State University, Tempe, AZ 85282, USA.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2023 Sep 30; Vol. 13 (10).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome, Human*
Sex Chromosomes*/genetics
Humans ; Female ; Male ; Pilot Projects ; Genomics ; X Chromosome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition.
Autorzy:
Hu W; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.; Key Laboratory of Brain Functional Genomics of Ministry of Education, School of Life Science, East China Normal University, Shanghai, China.
Hao Z; College of Artificial Intelligence and Big Data for Medical Sciences, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China.
Du P; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.; College of Artificial Intelligence and Big Data for Medical Sciences, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, China.
Di Vincenzo F; Natural History Museum, University of Florence, Florence, Italy.
Manzi G; Department of Environmental Biology, Sapienza University of Rome, Rome, Italy.
Cui J; Key Laboratory of Brain Functional Genomics of Ministry of Education, School of Life Science, East China Normal University, Shanghai, China.
Fu YX; Department of Biostatistics and Data Science, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Key Laboratory for Conservation and Utilization of Bioresources, Yunnan University, Kunming, China.
Pan YH; Key Laboratory of Brain Functional Genomics of Ministry of Education, School of Life Science, East China Normal University, Shanghai, China.
Li H; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Sep; Vol. 381 (6661), pp. 979-984. Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Evolution, Molecular*
Population Dynamics*/history
Humans ; Black People/genetics ; Black People/history ; Genomics ; Fossils ; European People/genetics ; European People/history ; Asian/genetics ; Asian/history
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Integrating sex-bias into studies of archaic introgression on chromosome X.
Autorzy:
Chevy ET; Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America.
Huerta-Sánchez E; Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America.; Department of Ecology, Evolution, and Organismal Biology, Brown University, Providence, Rhode Island, United States of America.
Ramachandran S; Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, United States of America.; Department of Ecology, Evolution, and Organismal Biology, Brown University, Providence, Rhode Island, United States of America.; Data Science Initiative, Brown University, Providence, Rhode Island, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Aug 14; Vol. 19 (8), pp. e1010399. Date of Electronic Publication: 2023 Aug 14 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genome, Human*/genetics
Hominidae*/genetics
X Chromosome*/genetics
Genetic Introgression*/genetics
Animals ; Humans ; Male ; Asian People/genetics ; Genome ; Neanderthals/genetics ; Sex Factors ; Haplotypes/genetics ; Chromosomes, Human/genetics ; Female ; South Asian People/genetics ; European People/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hidden Glutathione Transferases in the Human Genome.
Autorzy:
Oakley AJ; School of Chemistry and Molecular Bioscience, Faculty of Science, Medicine and Health, University of Wollongong, Wollongong, NSW 2522, Australia.
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Źródło:
Biomolecules [Biomolecules] 2023 Aug 12; Vol. 13 (8). Date of Electronic Publication: 2023 Aug 12.
Typ publikacji:
Journal Article
MeSH Terms:
Glutathione Transferase*/genetics
Genome, Human*
Humans ; Artificial Intelligence ; Algorithms ; Amino Acid Sequence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Classification of Promoter Sequences from Human Genome.
Autorzy:
Zaytsev K; Bach Institute of Biochemistry, Federal Research Center of Biotechnology of the Russian Academy of Sciences, 119071 Moscow, Russia.
Fedorov A; Bach Institute of Biochemistry, Federal Research Center of Biotechnology of the Russian Academy of Sciences, 119071 Moscow, Russia.
Korotkov E; Institute of Bioengineering, Federal Research Center of Biotechnology of the Russian Academy of Sciences, 119071 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 08; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 08.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Humans ; Alu Elements/genetics ; Databases, Factual ; DNA Transposable Elements/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The genetic architecture and evolution of the human skeletal form.
Autorzy:
Kun E; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Javan EM; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Smith O; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Gulamali F; Icahn School of Medicine at Mount Sinai, New York, NY, USA.
de la Fuente J; Department of Psychology, The University of Texas at Austin, Austin, TX, USA.
Flynn BI; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Vajrala K; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Trutner Z; Department of Surgery and Perioperative Care, The University of Texas at Austin, Austin, TX, USA.
Jayakumar P; Department of Surgery and Perioperative Care, The University of Texas at Austin, Austin, TX, USA.
Tucker-Drob EM; Department of Psychology, The University of Texas at Austin, Austin, TX, USA.
Sohail M; Centro de Ciencias Genómicas (CCG), Universidad Nacional Autónoma de México (UNAM), 62209 Cuernavaca, Mexico.
Singh T; Department of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.; The New York Genome Center, New York, NY, USA.; Mortimer B. Zuckerman Mind Brain Behavior Institute at Columbia University, New York, NY, USA.
Narasimhan VM; Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.; Department of Statistics and Data Science, The University of Texas at Austin, Austin, TX, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Jul 21; Vol. 381 (6655), pp. eadf8009. Date of Electronic Publication: 2023 Jul 21.
Typ publikacji:
Journal Article
MeSH Terms:
Multifactorial Inheritance*
Genome, Human*
Skeleton*/anatomy & histology
Skeleton*/growth & development
Evolution, Molecular*
Humans ; Genome-Wide Association Study ; Phenotype ; Polymorphism, Single Nucleotide ; Male ; Female
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optimized minimal genome-wide human sgRNA library.
Autorzy:
Zhou Y; College of Life Sciences, Zhejiang University, Hangzhou, 310058, China.; School of Life Sciences, Westlake University, 600 Dunyu Road, Hangzhou, 310030, Zhejiang, China.; Institute of Biology, Westlake Institute for Advanced Study, Hangzhou, 310024, Zhejiang, China.
Wang L; School of Life Sciences, Westlake University, 600 Dunyu Road, Hangzhou, 310030, Zhejiang, China.; Institute of Biology, Westlake Institute for Advanced Study, Hangzhou, 310024, Zhejiang, China.; School of Life Sciences, Fudan University, Shanghai, 200433, China.
Lu Z; College of Life Sciences, Zhejiang University, Hangzhou, 310058, China.; School of Life Sciences, Westlake University, 600 Dunyu Road, Hangzhou, 310030, Zhejiang, China.; Institute of Biology, Westlake Institute for Advanced Study, Hangzhou, 310024, Zhejiang, China.
Yu Z; School of Life Sciences, Westlake University, 600 Dunyu Road, Hangzhou, 310030, Zhejiang, China.; Institute of Biology, Westlake Institute for Advanced Study, Hangzhou, 310024, Zhejiang, China.; School of Life Sciences, Fudan University, Shanghai, 200433, China.
Ma L; School of Life Sciences, Westlake University, 600 Dunyu Road, Hangzhou, 310030, Zhejiang, China. .; Institute of Biology, Westlake Institute for Advanced Study, Hangzhou, 310024, Zhejiang, China. .; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, 310024, Zhejiang, China. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jul 18; Vol. 13 (1), pp. 11569. Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA, Guide, CRISPR-Cas Systems*
Genome, Human*
Humans ; Gene Library ; Genomic Library ; CRISPR-Cas Systems ; Gene Editing/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Regularized sequence-context mutational trees capture variation in mutation rates across the human genome.
Autorzy:
Adams CJ; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Conery M; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Auerbach BJ; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Jensen ST; Department of Statistics and Data Science, The Wharton School at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Mathieson I; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Voight BF; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Jul 07; Vol. 19 (7), pp. e1010807. Date of Electronic Publication: 2023 Jul 07 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Mutation Rate*
Genome, Human*/genetics
Humans ; Bayes Theorem ; Mutation ; Polymorphism, Genetic ; Markov Chains ; Monte Carlo Method
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pan-cancer analysis of whole-genome doubling and its association with patient prognosis.
Autorzy:
Kikutake C; Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan.
Suyama M; Medical Institute of Bioregulation, Kyushu University, Fukuoka, 812-8582, Japan. .
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Źródło:
BMC cancer [BMC Cancer] 2023 Jul 03; Vol. 23 (1), pp. 619. Date of Electronic Publication: 2023 Jul 03.
Typ publikacji:
Journal Article
MeSH Terms:
Genome, Human*
Neoplasms*/genetics
Humans ; Mutation ; Loss of Heterozygosity ; Prognosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel start codons introduce novel coding sequences in the human genomes.
Autorzy:
Zhang H; Quantitative Biomedical Research Center, Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. .
Xie Y; Quantitative Biomedical Research Center, Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 May 19; Vol. 13 (1), pp. 8141. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Genome, Human*
Humans ; Codon, Initiator/genetics ; RNA, Messenger/genetics ; Exons
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 7795

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