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Pf7: an open dataset of Plasmodium falciparum genome variation in 20,000 worldwide samples

2023· preprint· en· W4316495494 on OpenAlexaff
Muzamil Mahdi Abdel Hamid, Mohamed Hassan Abdelraheem, Desmond Omane Acheampong, Ambroise D. Ahouidi, Mozam Ali, Jacob Almagro‐Garcia, Alfred Amambua‐Ngwa, Chanaki Amaratunga, Lucas Amenga–Etego, Ben Andagalu, Tim Anderson, Voahangy Andrianaranjaka, Ifeyinwa Aniebo, Enoch Aninagyei, Felix Ansah, Patrick Ansah, Tobias O. Apinjoh, Paulo Arnaldo, Elizabeth A. Ashley, Sarah Auburn, Gordon A. Awandare, Hampaté Bâ, Vito Baraka, Alyssa E. Barry, Philip Bejon, Gwladys Bertin, Maciej F. Boni, Steffen Borrmann, Teun Bousema, Marielle Karine Bouyou-Akotet, OraLee H. Branch, Peter C. Bull, H K Cheah, Keobouphaphone Chindavongsa, Thanat Chookajorn, Kesinee Chotivanich, Antoine Claessens, David J. Conway, Vladimir Corredor, Erin Courtier, Alister Craig, Umberto D’Alessandro, Souleymane Dama, Nicholas Day, Brigitte Denis, Mehul Dhorda, Mahamadou Diakité, Abdoulaye Djimdé, Christiane Dolecek, Arjen M. Dondorp, Seydou Doumbia, Chris Drakeley, Eleanor Drury, Patrick Duffy, Diego F. Echeverry, Thomas G. Egwang, Sónia Maria Enosse, Berhanu Erko, Rick M. Fairhurst, Abdul Faiz, Caterina Fanello, Mark Fleharty, Matthew Forbes, Mark M. Fukuda, Dionicia Gamboa, Anita Ghansah, Lemu Golassa, Sónia Gonçalves, G. L. Abby Harrison, Sara A. Healy, Jason A. Hendry, Anastasia Hernández-Koutoucheva, Tran Tinh Hien, Catherine A. St. Hill, Francis Hombhanje, Amanda Hott, Ye Htut, Mazza Hussein, Mallika Imwong, Deus S. Ishengoma, Scott A. Jackson, Chris Jacob, Julia Jeans, Kimberly J. Johnson, Claire Kamaliddin, Edwin Kamau, Jon Keatley, Theerarat Kochakarn, Drissa Konaté, Abibatou Konaté, Aminatou Koné, Dominic Kwiatkowski, Myat Phone Kyaw, Dennis E. Kyle, Mara Lawniczak, Samuel K. Lee, Martha Lemnge, Pharath Lim, Chanthap Lon, Kovana Marcel Loua, Celine I. Mandara, Jutta Marfurt, Kevin Marsh, Richard J. Maude, Mayfong Mayxay, Oumou Maïga‐Ascofaré, Olivo Miotto, Toshihiro Mita, Victor A. Mobegi, Abdelrahim Osman Mohamed, Olugbenga Ayodeji Mokuolu, Jaqui Montgomery, Collins M. Morang’a, Ivo Müeller, Kathryn Murie, Paul N. Newton, Thang Ngo Duc, Thuy Nguyen, Thuy-Nhien Nguyen, Tuyen Nguyen Thi Kim, Hong Nguyen Van, Harald Noedl, François Nosten, Rintis Noviyanti, Vincent N. Ntui, Alexis Nzila, Lynette Isabella Ochola‐Oyier, Harold Ocholla, Abraham Oduro, Irene Omedo, Marie A. Onyamboko, Jean‐Bosco Ouédraogo, Kolapo Oyebola, Wellington Oyibo, Richard D. Pearson, Norbert Peshu, Aung Pyae Phyo, Christopher V. Plowe, Ric N. Price, Sasithon Pukrittayakamee, Huynh Hong Quang, Milijaona Randrianarivelojosia, Julian C. Rayner, Pascal Ringwald, Anna Rosanas‐Urgell, Eduard Rovira-Vallbona, Valentín Ruano-Rubio, Lastenia Ruiz Mesía, David Saunders, Alex Shayo, Peter Siba, Victoria Simpson, Mahamadou S. Sissoko, Christen Smith, Xin‐zhuan Su, Colin Sutherland, Shannon Takala‐Harrison, Arthur M. Talman, Livingstone Tavul, Ngo Viet Thanh, Vandana Thathy, Aung Myint Thu, Mahamoudou Touré, Antoinette Tshefu, Federica Verra, Joseph M. Vinetz, Thomas E. Wellems, Jason Wendler, Nicholas J. White, Georgia Whitton, William Yavo, Rob W. van der Pluijm

Bibliographic record

VenueWellcome Open Research · 2023
Typepreprint
Languageen
FieldMedicine
TopicMalaria Research and Control
Canadian institutionsUniversity of Calgary
FundersFaculty of Tropical Medicine, Mahidol UniversityAddis Ababa UniversityNational Institutes of HealthUniversiteit AntwerpenNational Institute for Medical ResearchMinistère de la SantéUniversidad Nacional de ColombiaBundesministerium für GesundheitWorld Health OrganizationUniversity of GhanaBill and Melinda Gates FoundationMahidol UniversityUniversity College LondonNational Center for Advancing Translational SciencesNational Human Genome Research InstituteWellcome TrustNational Institute of Allergy and Infectious DiseasesMedical Research CouncilLondon School of Hygiene and Tropical Medicine
KeywordsPlasmodium falciparumVariation (astronomy)BiologyGenomeComputational biologyStructural variationGeneticsMalariaEvolutionary biologyGeneImmunology

Abstract

fetched live from OpenAlex

We describe the MalariaGEN Pf7 data resource, the seventh release of Plasmodium falciparum genome variation data from the MalariaGEN network. It comprises over 20,000 samples from 82 partner studies in 33 countries, including several malaria endemic regions that were previously underrepresented. For the first time we include dried blood spot samples that were sequenced after selective whole genome amplification, necessitating new methods to genotype copy number variations. We identify a large number of newly emerging crt mutations in parts of Southeast Asia, and show examples of heterogeneities in patterns of drug resistance within Africa and within the Indian subcontinent. We describe the profile of variations in the C-terminal of the csp gene and relate this to the sequence used in the RTS,S and R21 malaria vaccines. Pf7 provides high-quality data on genotype calls for 6 million SNPs and short indels, analysis of large deletions that cause failure of rapid diagnostic tests, and systematic characterisation of six major drug resistance loci, all of which can be freely downloaded from the MalariaGEN website.

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

Direct model labels (unvalidated)

Per-model category and study-design labels from the labeling rounds. They are machine output, unvalidated, and the disagreement between models ships as data. No study design here is MEDLINE-validated yet.

Model armCategoriesStudy designConfidence
gemmano category
Domain: not available · Genre: Dataset
About the Canadian research system: no · About a Canadian topic: no
Not applicablelow
gptOpen science
Domain: not available · Genre: Dataset
About the Canadian research system: no · About a Canadian topic: no
Not applicablemedium
models splitAgreement compares identical category sets and study designs across arms.

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)0.002
metaresearch head score (Gemma)0.007
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Dataset · Consensus signal: Dataset
Teacher disagreement score0.025
Threshold uncertainty score0.085

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.007
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.008
Science and technology studies0.0010.000
Scholarly communication0.0020.001
Open science0.0010.002
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0250.021

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 head0.276
GPT teacher head0.455
Teacher spread0.179 · 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

Labeled directly by 2 models reading the full record.

Open science

The models disagree on parts of this classification; every voice is preserved in the section at the end of the page.

Study designNot applicable
Domainnot available
GenreDataset

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

Citations148
Published2023
Admission routes1
Has abstractyes

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