Evidence map›Paper›PMID 36386424›Full record

ArticleHGG advances2023

High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.

Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W L Sung, Joe Whitney, Zhuozhi Wang, Rohan V Patel, Katherine Keenan and 26 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 7 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors at 14 institutions in 1 country.

Scott MastromatteoProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Angela ChenProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Jiafen GongProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Fan LinProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Bhooma ThiruvahindrapuramProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Wilson W L SungProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Joe WhitneyProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Zhuozhi WangProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Rohan V PatelProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Katherine KeenanProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Anat HalevyProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Naim PanjwaniProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Julie AvolioProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Cheng WangProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Guillaume Côté-MauraisCentre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.
Stéphanie BéginCentre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.
Damien AdamCentre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.
Emmanuelle BrochieroCentre de recherche du centre hospitalier de l'Université de Montréal (CRCHUM), Montréal, QC, Canada.
Candice BjornsonAlberta Children's Hospital, Calgary, AB, Canada.
Mark ChilversBritish Columbia Children's Hospital, Vancouver, BC, Canada.
April PriceThe Children's Hospital, London Health Science Centre, London, ON, Canada.
Michael ParkinsUniversity of Calgary, Department of Medicine, Calgary, AB, Canada.
Richard van WylickKingston Health Sciences Centre, Kingston, ON, Canada.
Dimas Mateos-CorralIWK Health Centre, Halifax, NS, Canada.
Daniel HughesIWK Health Centre, Halifax, NS, Canada.
Mary Jane SmithMemorial University of Newfoundland, Faculty of Medicine, St. John's, NL, Canada.
Nancy MorrisonQueen Elizabeth II Health Sciences Centre, Halifax, NS, Canada.
Elizabeth TullisSt. Michael's Hospital, Toronto, ON, Canada.
Anne L StephensonSt. Michael's Hospital, Toronto, ON, Canada.
Pearce WilcoxSt. Paul's Hospital, Vancouver, BC, Canada.
Bradley S QuonSt. Paul's Hospital, Vancouver, BC, Canada.
Winnie M LeungUniversity of Alberta Hospital, Edmonton, AB, Canada.
Melinda SolomonDivision of Respiratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.
Lei SunDepartment of Statistical Sciences, University of Toronto, Toronto, ON, Canada.
Felix RatjenProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Lisa J StrugProgram in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Hospital for Sick Children · CACentre Hospitalier de l’Université de Montréal · CASickKids Foundation · CAIzaak Walton Killam Health Centre · CASt. Michael's Hospital · CASt. Paul's Hospital · CAUniversity of Toronto · CAAlberta Children's Hospital · CAAlberta Hospital Edmonton · CABritish Columbia Children's Hospital · CAKingston Health Sciences Centre · CAMemorial University of Newfoundland · CAQueen Elizabeth II Health Sciences Centre · CAUniversity of Calgary · CA

Funding

CIHR FRN 167282
6 · The paper itself

Abstract

Phasing of heterozygous alleles is critical for interpretation of

Indexed as

Cystic FibrosisIntestinal ObstructionMeconium IleusCystic Fibrosis Transmembrane Conductance RegulatorHumansInfant, NewbornMeconiumTrypsinTrypsinogenCystic Fibrosis Transmembrane Conductance RegulatorPRSS2 protein, humanTrypsinTrypsinogenCFTRcolocalizationcystic fibrosiseQTLlinked-readsmeconium ileuspancreatitisphasingPRSS2trypsinogen

Identifiers

PMID36386424
PMCPMC9647008
OpenAlexW4306932083

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.