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Record W4367173653 · doi:10.1126/science.abn3943

Evolutionary constraint and innovation across hundreds of placental mammals

2023· article· en· W4367173653 on OpenAlexaff
Matthew J. Christmas, Irene M. Kaplow, Diane P. Genereux, Patrick F. Sullivan, Allyson G. Hindle, Matteo Bianchi, Ana M. Breit, Mark Diekhans, Cornelia Fanter, Nicole M. Foley, Daniel B. Goodman, Linda Goodman, Bogdan Kirilenko, Abigail Lind, Jennifer R. S. Meadows, 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, Alyssa J. Lawler, Voichita D. Marinescu, Kathleen M. Morrill, Austin Osmanski, 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, Tomàs 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, Kevin R. Bredemeyer, Hiram Clawson, Federica Di Palma, Eduardo Eizirik, Karin Forsberg‐Nilsson, Carlos J. Garcia, Michaela K. Halsey, Andrew J. Harris, Glenn Hickey, David Juan, Jennifer M. Korstian, Thomas Lehmann, Ava Mackay-Smith, Victor C. Mason, Jill E. Moore, Diana D. Moreno-Santillán, Gerard Muntané, Sylvia Ortmann, Henry Pratt, Jeb Rosen, Aitor Serres, Chaitanya Srinivasan, Jessica M. Storer, Kevin A. Sullivan, Elisabeth Sundström, Joy-El Talbot, Jason Turner-Maier, Chao Wang, Juehan Wang, Xiaomeng Zhang

Bibliographic record

VenueScience · 2023
Typearticle
Languageen
FieldEarth and Planetary Sciences
TopicEvolution and Paleontology Studies
Canadian institutionsCanadian Museum of Nature
FundersNational Human Genome Research InstituteAgencia Estatal de InvestigaciónVetenskapsrådetUniversity of California, DavisNational Science FoundationScience Foundation IrelandScience for Life LaboratoryUppsala Multidisciplinary Center for Advanced Computational ScienceIrish Research CouncilHigh Performance Research Computing, Texas A and M UniversityUniversity of MaineUniversity College DublinEuropean CommissionBroad InstituteRoddenberry FoundationCarnegie Mellon UniversityGladstone InstitutesNational Cancer InstituteKnut och Alice Wallenbergs StiftelseLehigh UniversityAlfred P. Sloan FoundationNational Institutes of HealthNational Institute on AgingNational Institute on Drug Abuse
KeywordsConstraint (computer-aided design)Evolutionary biologyBiologyBiological evolutionComputational biologyGeneticsMathematics

Abstract

fetched live from OpenAlex

Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (~10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0020.002
Science and technology studies0.0010.001
Scholarly communication0.0020.001
Open science0.0010.002
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0060.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.035
GPT teacher head0.298
Teacher spread0.263 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations268
Published2023
Admission routes1
Has abstractyes

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