Kaili Fan

ORCID: 0000-0002-8723-7902
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Research Areas
  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • Epigenetics and DNA Methylation
  • Genomics and Phylogenetic Studies
  • Chromosomal and Genetic Variations
  • RNA and protein synthesis mechanisms
  • RNA modifications and cancer
  • Vitamin D Research Studies
  • Genetic diversity and population structure
  • Bone health and osteoporosis research
  • Tryptophan and brain disorders
  • Schizophrenia research and treatment
  • Bat Biology and Ecology Studies
  • Pharmacological Effects and Toxicity Studies
  • Animal Genetics and Reproduction
  • Cancer-related molecular mechanisms research
  • Acute Ischemic Stroke Management
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Cerebrovascular and Carotid Artery Diseases
  • Neuroscience and Music Perception
  • Bioinformatics and Genomic Networks
  • Diet and metabolism studies
  • Marine animal studies overview
  • Stroke Rehabilitation and Recovery
  • Evolution and Paleontology Studies

Harbin Institute of Technology
2025

University of Massachusetts Chan Medical School
2019-2024

Bozhou People's Hospital
2024

Children's Hospital
2024

Wenzhou City People's Hospital
2023-2024

Weifang People's Hospital
2023

Zoological Society of San Diego
2023

University of California, Santa Cruz
2023

Harvard University
2023

UMass Memorial Medical Center
2022

Matthew J. Christmas Irene M. Kaplow Diane P. Genereux Michael X. Dong Graham M. Hughes and 95 more Xue Li Patrick F. Sullivan Allyson G. Hindle Gregory Andrews Joel Armstrong Matteo Bianchi Ana M. Breit Mark Diekhans Cornelia Fanter Nicole M. Foley Daniel B. Goodman Linda Goodman Kathleen C. Keough Bogdan Kirilenko Amanda Kowalczyk Colleen Lawless Abigail Lind Jennifer R. S. Meadows Lucas R. Moreira Ruby Redlich Louise Ryan Ross Swofford Alejandro Valenzuela Franziska Wagner Ola Wallerman Ashley R. Brown Joana Damas Kaili Fan John Gatesy Jenna Grimshaw Jeremy Johnson Sergey V. Kozyrev Alyssa J. Lawler Voichita D. Marinescu Kathleen M. Morrill Austin Osmanski Nicole S. Paulat BaDoi N. Phan Steven K. Reilly Daniel E. Schäffer Cynthia Steiner Megan A. Supple Aryn P. Wilder Morgan Wirthlin James R. Xue Susan J. Birren Steven Gazal Robert Hubley Klaus‐Peter Koepfli Tomás Marquès‐Bonet Wynn K. Meyer Martin Nweeia Pardis C. Sabeti Beth Shapiro Arian F. A. Smit Mark S. Springer Emma C. Teeling Zhiping Weng Michael Hiller Danielle L. Levesque Harris A. Lewin William J. Murphy Arcadi Navarro Benedict Paten Katherine S. Pollard David A. Ray Irina Ruf Oliver A. Ryder Andreas R. Pfenning Kerstin Lindblad‐Toh Elinor K. Karlsson Gregory Andrews Joel Armstrong Matteo Bianchi Susan J. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey

Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes 240 species, we identify bases that, when mutated, are likely affect fitness and alter disease risk. At least 332 million (~10.7%) in human genome unusually conserved across species (evolutionarily constrained) relative neutrally evolving repeats, 4552 ultraconserved elements nearly perfectly conserved. Of 101 significantly constrained single bases, 80% outside protein-coding exons half...

10.1126/science.abn3943 article EN Science 2023-04-27
Bogdan Kirilenko Chetan Munegowda Ekaterina Osipova David Jebb Virag Sharma and 95 more Moritz Blumer Ariadna E. Morales Alexis-Walid Ahmed Dimitrios ‐ Georgios Kontopoulos Leon Hilgers Kerstin Lindblad‐Toh Elinor K. Karlsson Michael Hiller Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan

Annotating coding genes and inferring orthologs are two classical challenges in genomics evolutionary biology that have traditionally been approached separately, limiting scalability. We present TOGA (Tool to infer Orthologs from Genome Alignments), a method integrates structural gene annotation orthology inference. implements different paradigm orthologous loci, improves ortholog detection of conserved compared with state-of-the-art methods, handles even highly fragmented assemblies. scales...

10.1126/science.abn3107 article EN Science 2023-04-27
Nicole M. Foley Victor C. Mason Andrew J. Harris Kevin R. Bredemeyer Joana Damas and 95 more Harris A. Lewin Eduardo Eizirik John Gatesy Elinor K. Karlsson Kerstin Lindblad‐Toh Mark S. Springer William J. Murphy Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan Elisabeth Sundström

The precise pattern and timing of speciation events that gave rise to all living placental mammals remain controversial. We provide a comprehensive phylogenetic analysis genetic variation across an alignment 241 mammal genome assemblies, addressing prior concerns regarding limited genomic sampling species. compared neutral genome-wide phylogenomic signals using concatenation coalescent-based approaches, interrogated chromosomes, analyzed extensive catalogs structural variants. Interordinal...

10.1126/science.abl8189 article EN Science 2023-04-27
Patrick F. Sullivan Jennifer R. S. Meadows Steven Gazal BaDoi N. Phan Xue Li and 95 more Diane P. Genereux Michael X. Dong Matteo Bianchi Gregory Andrews Sharadha Sakthikumar Jessika Nordin Ananya Roy Matthew J. Christmas Voichita D. Marinescu Chao Wang Ola Wallerman James R. Xue Shuyang Yao Quan Sun Jin Szatkiewicz Jia Wen Laura M. Huckins Alyssa J. Lawler Kathleen C. Keough Zhili Zheng Jian Zeng Naomi R. Wray Yun Li Jessica Johnson Jiawen Chen Benedict Paten Steven K. Reilly Graham M. Hughes Zhiping Weng Katherine S. Pollard Andreas R. Pfenning Karin Forsberg‐Nilsson Elinor K. Karlsson Kerstin Lindblad‐Toh Gregory Andrews Joel Armstrong Matteo Bianchi Susan J. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro

Thousands of genomic regions have been associated with heritable human diseases, but attempts to elucidate biological mechanisms are impeded by an inability discern which positions functionally important. Evolutionary constraint is a powerful predictor function, agnostic cell type or disease mechanism. Single-base phyloP scores from 240 mammals identified 3.3% the genome as significantly constrained and likely functional. We compared annotation, association studies, copy-number variation,...

10.1126/science.abn2937 article EN Science 2023-04-27
Austin Osmanski Nicole S. Paulat Jennifer M. Korstian Jenna Grimshaw Michaela K. Halsey and 95 more Kevin A. Sullivan Diana D. Moreno-Santillán Claudia Crookshanks Jacquelyn Roberts Carlos J. Garcia Matthew G. Johnson Llewellyn D. Densmore Richard D. Stevens Jeb Rosen Jessica M. Storer Robert Hubley Arian F. A. Smit Liliana M. Dávalos Elinor K. Karlsson Kerstin Lindblad‐Toh David A. Ray Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres

We examined transposable element (TE) content of 248 placental mammal genome assemblies, the largest de novo TE curation effort in eukaryotes to date. found that although mammals resemble one another total and diversity, they show substantial differences with regard recent accumulation. This includes multiple expansion quiescence events across mammalian tree. Young TEs, particularly long interspersed elements, drive increases size, whereas DNA transposons are associated smaller genomes....

10.1126/science.abn1430 article EN Science 2023-04-27
Kathleen C. Keough Sean Whalen Fumitaka Inoue Pawel F. Przytycki Tyler Fair and 95 more Chengyu Deng Marilyn Steyert Hane Ryu Kerstin Lindblad‐Toh Elinor K. Karlsson Tomasz J. Nowakowski Nadav Ahituv Alex A. Pollen Katherine S. Pollard Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan

Human accelerated regions (HARs) are conserved genomic loci that evolved at an rate in the human lineage and may underlie human-specific traits. We generated HARs chimpanzee with automated pipeline alignment of 241 mammalian genomes. Combining deep learning chromatin capture experiments neural progenitor cells, we discovered a significant enrichment topologically associating domains containing variants change three-dimensional (3D) genome organization. Differential gene expression between...

10.1126/science.abm1696 article EN Science 2023-04-27
Gregory Andrews Kaili Fan Henry Pratt Nishigandha Phalke Elinor K. Karlsson and 95 more Kerstin Lindblad‐Toh Steven Gazal Jill E. Moore Zhiping Weng Gregory Andrews Joel C. Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan Elisabeth Sundström Megan A. Supple Ross Swofford Joy-El Talbot

Understanding the regulatory landscape of human genome is a long-standing objective modern biology. Using reference-free alignment across 241 mammalian genomes produced by Zoonomia Consortium, we charted evolutionary trajectories for 0.92 million candidate cis-regulatory elements (cCREs) and 15.6 transcription factor binding sites (TFBSs). We identified 439,461 cCREs 2,024,062 TFBSs under constraint. Genes near constrained perform fundamental cellular processes, whereas genes...

10.1126/science.abn7930 article EN Science 2023-04-27
Aryn P. Wilder Megan A. Supple Ayshwarya Subramanian Anish Mudide Ross Swofford and 95 more Aitor Serres‐Armero Cynthia Steiner Klaus‐Peter Koepfli Diane P. Genereux Elinor K. Karlsson Kerstin Lindblad‐Toh Tomás Marquès‐Bonet Violeta Muñoz‐Fuentes Kathleen Foley Wynn K. Meyer Oliver A. Ryder Beth Shapiro Gregory Andrews Joel Armstrong Matteo Bianchi Susan J. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan

Species persistence can be influenced by the amount, type, and distribution of diversity across genome, suggesting a potential relationship between historical demography resilience. In this study, we surveyed genetic variation single genomes 240 mammals that compose Zoonomia alignment to evaluate how effective population size (

10.1126/science.abn5856 article EN Science 2023-04-27
Irene M. Kaplow Alyssa J. Lawler Daniel E. Schäffer Chaitanya Srinivasan Heather H. Sestili and 95 more Morgan Wirthlin BaDoi N. Phan Kavya Prasad Ashley R. Brown Xiaomeng Zhang Kathleen Foley Diane P. Genereux Elinor K. Karlsson Kerstin Lindblad‐Toh Wynn K. Meyer Andreas R. Pfenning Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner

Protein-coding differences between species often fail to explain phenotypic diversity, suggesting the involvement of genomic elements that regulate gene expression such as enhancers. Identifying associations enhancers and phenotypes is challenging because enhancer activity can be tissue-dependent functionally conserved despite low sequence conservation. We developed Tissue-Aware Conservation Inference Toolkit (TACIT) associate candidate with species' using predictions from machine learning...

10.1126/science.abm7993 article EN cc-by-sa Science 2023-04-27
James R. Xue Ava Mackay-Smith Kousuke Mouri Meilín Fernández García Michael X. Dong and 95 more Jared F. Akers Mark Noble Xue Li Kerstin Lindblad‐Toh Elinor K. Karlsson James P. Noonan Terence D. Capellini Kristen Brennand Ryan Tewhey Pardis C. Sabeti Steven K. Reilly Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner

Conserved genomic sequences disrupted in humans may underlie uniquely human phenotypic traits. We identified and characterized 10,032 human-specific conserved deletions (hCONDELs). These short (average 2.56 base pairs) are enriched for brain functions across genetic, epigenomic, transcriptomic datasets. Using massively parallel reporter assays six cell types, we discovered 800 hCONDELs conferring significant differences regulatory activity, half of which enhance rather than disrupt function....

10.1126/science.abn2253 article EN Science 2023-04-27

Abstract Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation the impact of human genetic variation on disease 1–6 . Here we create evaluate a resource >13 million enhancer-gene regulatory interactions across 352 cell types tissues, by integrating predictive models, measurements chromatin state 3D contacts, large-scale perturbations generated ENCODE Consortium 7 We first systematic benchmarking pipeline to compare assembling dataset...

10.1101/2023.11.09.563812 preprint EN cc-by-nd bioRxiv (Cold Spring Harbor Laboratory) 2023-11-13

Inflammatory cytokines are fundamental mediators of the organismal response to injury, infection, or other harmful stimuli. To elucidate early and mostly direct transcriptional signatures inflammatory cytokines, we profiled all immunologic cell types by RNAseq after systemic exposure IL1β, IL6, TNFα. Our results revealed a significant overlap in responses, with broad divergence between myeloid lymphoid cells, but very few cell-type-specific responses. Pathway motif analysis identified...

10.1084/jem.20241207 article EN The Journal of Experimental Medicine 2025-01-28

Abstract The morphologically and functionally distinct cell types of a multicellular organism are maintained by their unique epigenomes gene expression programs. Phase III the ENCODE Project profiled 66 mouse across twelve tissues at daily intervals from embryonic day 11.5 to birth. Applying ChromHMM algorithm these epigenomes, we annotated eighteen chromatin states with characteristics promoters, enhancers, transcribed regions, repressed quiescent regions. Our integrative analyses delineate...

10.1038/s42003-021-01756-4 article EN cc-by Communications Biology 2021-02-22
Joana Damas Marco Corbo Jaebum Kim Jason Turner-Maier Marta Farré and 95 more Denis M. Larkin Oliver A. Ryder Cynthia Steiner Marlys L. Houck Shaune Hall Lily Shiue Stephen G. Thomas Thomas Swale Mark J. Daly Jonas Korlach Marcela Uliano‐Silva Camila J. Mazzoni Bruce W. Birren Diane P. Genereux Jeremy Johnson Kerstin Lindblad‐Toh Elinor K. Karlsson Martin Nweeia Rebecca N. Johnson Harris A. Lewin Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan

Decrypting the rearrangements that drive mammalian chromosome evolution is critical to understanding molecular bases of speciation, adaptation, and disease susceptibility. Using 8 scaffolded 26 chromosome-scale genome assemblies representing 23/26 mammal orders, we computationally reconstructed ancestral karyotypes syntenic relationships at 16 nodes along phylogeny. Three different reference genomes (human, sloth, cattle) phylogenetically distinct superorders were used assess bias in expand...

10.1073/pnas.2209139119 article EN cc-by Proceedings of the National Academy of Sciences 2022-09-26
Morgan Wirthlin Tobias A. Schmid Julie E. Elie Xiaomeng Zhang Amanda Kowalczyk and 95 more Ruby Redlich Varvara A. Shvareva Ashley Rakuljic Maria B. Ji Ninad S. Bhat Irene M. Kaplow Daniel E. Schäffer Alyssa J. Lawler Andrew Z. Wang BaDoi N. Phan Siddharth Annaldasula Ashley R. Brown Tianyu Lu Byung Kook Lim Eiman Azim Nathan L. Clark Wynn K. Meyer Sergei L. Kosakovsky Pond Maria Chikina Michael M. Yartsev Andreas R. Pfenning Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf

Vocal production learning ("vocal learning") is a convergently evolved trait in vertebrates. To identify brain genomic elements associated with mammalian vocal learning, we integrated genomic, anatomical, and neurophysiological data from the Egyptian fruit bat (

10.1126/science.abn3263 article EN Science 2024-02-29

Graphene oxide (GO) is an attractive alternative for large-scale production of graphene, but its general structure still under debate due to complicated nonstoichiometric nature. Here we perform a set femtosecond pump–probe experiments on as-synthesized GO extrapolate structural information in situ. Remarkably, it observed that, these highly oxidized samples, the ultrafast graphene-like dynamics intrinsic pristine graphene completely dominant over wide energy region and can be modified by...

10.1021/ja407110r article EN Journal of the American Chemical Society 2013-07-29

Inflammation plays an important role in stroke. Many inflammatory markers peripheral blood are proved to be associated with stroke severity or prognosis. But few comprehensive models scales evaluate the post-stroke depression (PSD) have been reported. In this study, we aimed compare level of systemic inflammation between PSD and non-PSD patients explore association these PSD.Totally, 432 ischemic were consecutively enrolled study received 1 month follow-up. We used 17-Hamilton Rating Scale...

10.2147/cia.s314131 article EN cc-by-nc Clinical Interventions in Aging 2021-06-01

Transcriptomic analyses have revealed an unexpected complexity in the eukaryote transcriptome, which includes not only protein-coding transcripts but also expanding catalog of noncoding RNAs (ncRNAs). Diverse coding and (ncRNAs) perform functions through interaction with each other various cellular processes. In this project, we developed RAID (http://www.rna-society.org/raid), RNA-associated (RNA–RNA/RNA–protein) database. intends to provide scientific community all-in-one resources for...

10.1261/rna.044776.114 article EN RNA 2014-05-06

Sulfate-reducing bacteria (SRB) are anaerobic microorganisms that use sulfate as a terminal electron acceptor for the oxidation of organic compounds or H2. These organisms can cause serious problem in, example, offshore oil industry, due to production sulfide. Thus, it is fundamental and practical importance identify potent selective inhibitors SRB. In this study, neutral red was identified previously unrecognized inhibitor SRB, with several orders magnitude higher potency than most commonly...

10.1021/acs.est.4c09915 article EN Environmental Science & Technology 2025-02-19

Over 20 months, we prospectively assessed the yield of cultures for Salmonella, Shigella, and Campylobacter spp. from adults children. In first 10 53% (567 1,097) specimens were patients who had been in hospital > 3 days. Overall, only 2.6% (29 contained pathogens, all < or = second days not cultured unless special reasons existed. Thirty percent (368 1,229) rejected. Concurrently, 7.5% (51 677) stool children positive. Only one positive specimen came a child Neither consistency nor...

10.1128/jcm.31.8.2233-2235.1993 article EN Journal of Clinical Microbiology 1993-08-01

Enhancers are distal cis-regulatory elements that modulate gene expression. They depleted of nucleosomes and enriched in specific histone modifications; thus, calling DNase-seq mark ChIP-seq peaks can predict enhancers. We evaluated nine peak-calling algorithms for predicting enhancers validated by transgenic mouse assays. DNase H3K27ac were consistently more predictive than H3K4me1/2/3 H3K9ac peaks. DFilter Hotspot2 the best peak callers, while HOMER, MUSIC, MACS2, F-seq callers. observed...

10.1093/nar/gky753 article EN cc-by-nc Nucleic Acids Research 2018-08-08

Major depressive disorder is an ordinary mental disorder, and suicide considered to be a major concern among patients with MDD. Previous studies focused on the relationship between attempts metabolism in elderly MDD, while ignore young people. The aim of this study find potential MDD way prevent ultimately reduce MDD.Cross-sectional design was employed study.740 aged 18 45 years old had been consecutively recruited 2011 2017, 128 whom attempts. Their serum samples used monitor fasting blood...

10.1186/s12888-020-02791-x article EN cc-by BMC Psychiatry 2020-07-28
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