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Search: WFRF:(Karlsson Patrick) > (2020-2024) > Leveraging base-pai...

  • Sullivan, Patrick F.Univ N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA.;Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden. (author)

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • American Association for the Advancement of Science (AAAS),2023
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-505276
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-505276URI
  • https://doi.org/10.1126/science.abn2937DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:152780280URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Thousands of genomic regions have been associated with heritable human diseases, but attempts to elucidate biological mechanisms are impeded by an inability to discern which genomic positions are functionally important. Evolutionary constraint is a powerful predictor of function, agnostic to cell type or disease mechanism. Single-base phyloP scores from 240 mammals identified 3.3% of the human genome as significantly constrained and likely functional. We compared phyloP scores to genome annotation, association studies, copy-number variation, clinical genetics findings, and cancer data. Constrained positions are enriched for variants that explain common disease heritability more than other functional annotations. Our results improve variant annotation but also highlight that the regulatory landscape of the human genome still needs to be further explored and linked to disease.

Subject headings and genre

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  • Meadows, JenniferUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)jenme818 (author)
  • Gazal, StevenUniv Southern Calif, Keck Sch Med, Dept Populat & Publ Hlth Sci, Los Angeles, CA 90033 USA.;Univ Southern Calif, Keck Sch Med, Ctr Genet Epidemiol, Los Angeles, CA 90033 USA. (author)
  • Phan, BaDoi N.Carnegie Mellon Univ, Sch Comp Sci, Dept Computat Biol, Pittsburgh, PA 15213 USA. (author)
  • Li, XueUniv Massachusetts, Program Bioinformat & Integrat Biol, Med Sch, Worcester, MA 01605 USA.;Broad Inst & Harvard, Cambridge, MA 02139 USA. (author)
  • Genereux, Diane P.Univ Massachusetts, Program Bioinformat & Integrat Biol, Med Sch, Worcester, MA 01605 USA. (author)
  • Dong, Michael X.Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)micdo164 (author)
  • Bianchi, MatteoUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)matbi944 (author)
  • Andrews, GregoryUniv Massachusetts, Program Bioinformat & Integrat Biol, Med Sch, Worcester, MA 01605 USA. (author)
  • Sakthikumar, SharadhaKarolinska Institutet,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi,Broad Inst & Harvard, Cambridge, MA 02139 USA.(Swepub:uu)shasa907 (author)
  • Nordin, JessikaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)jesno731 (author)
  • Roy, AnanyaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)anaro911 (author)
  • Christmas, MatthewUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)match108 (author)
  • Marinescu, VoichitaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)voima415 (author)
  • Wang, ChaoUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)chawa410 (author)
  • Wallerman, OlaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)olwal516 (author)
  • Xue, JamesBroad Inst & Harvard, Cambridge, MA 02139 USA.;Harvard Univ, Dept Organism & Evolutionary Biol, Ctr Syst Biol, Cambridge, MA 02138 USA. (author)
  • Yao, ShuyangKarolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden. (author)
  • Sun, QuanUniv N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA. (author)
  • Szatkiewicz, JinUniv N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA. (author)
  • Wen, JiaUniv N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA. (author)
  • Huckins, Laura M.Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA. (author)
  • Lawler, AlyssaCarnegie Mellon Univ, Neurosci Inst, Pittsburgh, PA 15213 USA.;Carnegie Mellon Univ, Dept Biol Sci, Pittsburgh, PA 15213 USA. (author)
  • Keough, Kathleen C.Gladstone Inst, San Francisco, CA 94158 USA.;Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94158 USA. (author)
  • Zheng, ZhiliUniv Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia. (author)
  • Zeng, JianUniv Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia. (author)
  • Wray, Naomi R.Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia. (author)
  • Li, YunUniv N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA. (author)
  • Johnson, JessicaIcahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA. (author)
  • Chen, JiawenUniv N Carolina, Dept Biostat, Med Sch, Chapel Hill, NC 27599 USA. (author)
  • Paten, BenedictUC Santa Cruz Genom Inst, Santa Cruz, CA 95064 USA. (author)
  • Reilly, Steven K.Yale Sch Med, Dept Genet, New Haven, CT 06510 USA. (author)
  • Hughes, Graham M.Univ Coll Dublin, Sch Biol & Environm Sci, Dublin 4, Ireland. (author)
  • Weng, ZhipingUniv Massachusetts, Program Bioinformat & Integrat Biol, Med Sch, Worcester, MA 01605 USA. (author)
  • Pollard, Katherine S.Gladstone Inst, San Francisco, CA 94158 USA.;Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94158 USA.;Chan Zuckerberg Biohub, San Francisco, CA 94158 USA. (author)
  • Pfenning, Andreas R.Carnegie Mellon Univ, Sch Comp Sci, Dept Computat Biol, Pittsburgh, PA 15213 USA.;Carnegie Mellon Univ, Neurosci Inst, Pittsburgh, PA 15213 USA. (author)
  • Forsberg Nilsson, Karin,1963-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Uppsala Univ, Dept Immunol Genet & Pathol, Univ Nottingham, Biodiscovery Inst, Nottingham NG7 2RD, England.(Swepub:uu)karifors (author)
  • Karlsson, Elinor K.Univ Massachusetts, Program Bioinformat & Integrat Biol, Med Sch, Worcester, MA 01605 USA.;Broad Inst & Harvard, Cambridge, MA 02139 USA.;UMass Chan Med Sch, Program Mol Med, Worcester, MA 01605 USA. (author)
  • Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst & Harvard, Cambridge, MA 02139 USA.(Swepub:uu)kerli865 (author)
  • Univ N Carolina, Dept Genet, Med Sch, Chapel Hill, NC 27599 USA.;Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.Institutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

Related titles

  • In:Science: American Association for the Advancement of Science (AAAS)380:6643, s. 367-+0036-80751095-9203

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