Author

Carmen Treacy

University of Cambridge

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 4 Bioinformatics· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Assay:whole-genome sequencing· 3 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Anton Vonk NoordegraafiD· 6 shared Christopher J. RhodesiD· 6 shared David Gerard KielyiD· 6 shared David MontaniiD· 6 shared Allan LawrieiD· 5 shared Barbara Girerd· 5 shared Colin ChurchiD· 5 shared Harm Jan BogaardiD· 5 shared

Activity by Year

2018-2023 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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6 shared papersGenetics

Anton Vonk NoordegraafORCID

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Author profile →

6 papers

Recent·Most cited

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Antonio Tenorio, Emily P. Callejo, Kristina Day, , Dmitry A. Zateyshchikov

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

Genetics in Medicine · Jul 5, 2023Peer-reviewedGenetic & Genomic Medicine

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, , National Cohort Study of Idiopathic and Heritable PAH

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

Genome Medicine · May 10, 2021Peer-reviewedGenetics

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu, Karyn Mégy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen Treacy, Christopher J. Penkett, , Rachel J. Buchan

Circulation Genomic and Precision Medicine · Dec 15, 2020Peer-reviewedGenetics

Genetic determinants of risk and survival in pulmonary arterial hypertension

Christopher J. Rhodes, Ken Batai, Marta Bleda, Matthias Haimel, Laura Southgate, Marine Germain, Michael W. Pauciulo, Charaka Hadinnapola, Jurjan Aman, Barbara Girerd, Amit Arora, Jo Knight, Ken Benjamin Hanscombe, Jason H. Karnes, Marika Kaakinen, , Quinten Waisfisz

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

The Lancet Respiratory Medicine · Dec 5, 2018Peer-reviewedGenetics

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark R. Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen Treacy, Katherine Yates, Louise C. Daugherty, , Nicholas W. Morrell

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

Nature Communications · Apr 11, 2018Peer-reviewedGenetics

Telomerecat: A Ploidy-Agnostic Method For Estimating Telomere Length From Whole Genome Sequencing Data

James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Aarnoud P. Huissoon, Abigail Furnell, Adam J. Mead, Adam P. Levine, Adnan Yousaf Manzur, Adrian James Thrasher, Alan J. Greenhalgh, Alasdair P. J. Parker, Alba Sanchis‐Juan, Alex Richter, Alice Gardham, Allan Lawrie, , Emma L. Wakeling

Telomerecat estimates telomere length from whole-genome sequencing data without requiring prior knowledge of ploidy, showing good performance and detecting expected patterns in various data types.

Scientific Reports · Jan 16, 2018Peer-reviewedBioinformatics