Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
Author
Abstract
Suggested Citation
DOI: 10.1038/s41467-022-35354-7
Download full text from publisher
References listed on IDEAS
- Hannes P. Eggertsson & Snaedis Kristmundsdottir & Doruk Beyter & Hakon Jonsson & Astros Skuladottir & Marteinn T. Hardarson & Daniel F. Gudbjartsson & Kari Stefansson & Bjarni V. Halldorsson & Pall Me, 2019. "GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs," Nature Communications, Nature, vol. 10(1), pages 1-8, December.
- Peter H. Sudmant & Tobias Rausch & Eugene J. Gardner & Robert E. Handsaker & Alexej Abyzov & John Huddleston & Yan Zhang & Kai Ye & Goo Jun & Markus Hsi-Yang Fritz & Miriam K. Konkel & Ankit Malhotra , 2015. "An integrated map of structural variation in 2,504 human genomes," Nature, Nature, vol. 526(7571), pages 75-81, October.
- Sebastian Niehus & Hákon Jónsson & Janina Schönberger & Eythór Björnsson & Doruk Beyter & Hannes P. Eggertsson & Patrick Sulem & Kári Stefánsson & Bjarni V. Halldórsson & Birte Kehr, 2021. "PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes," Nature Communications, Nature, vol. 12(1), pages 1-10, December.
- David Jakubosky & Matteo D’Antonio & Marc Jan Bonder & Craig Smail & Margaret K. R. Donovan & William W. Young Greenwald & Hiroko Matsui & Agnieszka D’Antonio-Chronowska & Oliver Stegle & Erin N. Smit, 2020. "Properties of structural variants and short tandem repeats associated with gene expression and complex traits," Nature Communications, Nature, vol. 11(1), pages 1-15, December.
- Daniel C. Jeffares & Clemency Jolly & Mimoza Hoti & Doug Speed & Liam Shaw & Charalampos Rallis & Francois Balloux & Christophe Dessimoz & Jürg Bähler & Fritz J. Sedlazeck, 2017. "Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast," Nature Communications, Nature, vol. 8(1), pages 1-11, April.
- Allison A. Regier & Yossi Farjoun & David E. Larson & Olga Krasheninina & Hyun Min Kang & Daniel P. Howrigan & Bo-Juen Chen & Manisha Kher & Eric Banks & Darren C. Ames & Adam C. English & Heng Li & J, 2018. "Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects," Nature Communications, Nature, vol. 9(1), pages 1-8, December.
- David W. Morgens & Michael Wainberg & Evan A. Boyle & Oana Ursu & Carlos L. Araya & C. Kimberly Tsui & Michael S. Haney & Gaelen T. Hess & Kyuho Han & Edwin E. Jeng & Amy Li & Michael P. Snyder & Will, 2017. "Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens," Nature Communications, Nature, vol. 8(1), pages 1-8, August.
- Daniel Taliun & Daniel N. Harris & Michael D. Kessler & Jedidiah Carlson & Zachary A. Szpiech & Raul Torres & Sarah A. Gagliano Taliun & André Corvelo & Stephanie M. Gogarten & Hyun Min Kang & Achille, 2021. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program," Nature, Nature, vol. 590(7845), pages 290-299, February.
- Ernest Turro & William J. Astle & Karyn Megy & Stefan Gräf & Daniel Greene & Olga Shamardina & Hana Lango Allen & Alba Sanchis-Juan & Mattia Frontini & Chantal Thys & Jonathan Stephens & Rutendo Mapet, 2020. "Whole-genome sequencing of patients with rare diseases in a national health system," Nature, Nature, vol. 583(7814), pages 96-102, July.
Most related items
These are the items that most often cite the same works as this one and are cited by the same works as this one.- Timofey Prodanov & Vikas Bansal, 2022. "Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
- Yichen Henry Liu & Can Luo & Staunton G. Golding & Jacob B. Ioffe & Xin Maizie Zhou, 2024. "Tradeoffs in alignment and assembly-based methods for structural variant detection with long-read sequencing data," Nature Communications, Nature, vol. 15(1), pages 1-22, December.
- Xiaoling Tong & Min-Jin Han & Kunpeng Lu & Shuaishuai Tai & Shubo Liang & Yucheng Liu & Hai Hu & Jianghong Shen & Anxing Long & Chengyu Zhan & Xin Ding & Shuo Liu & Qiang Gao & Bili Zhang & Linli Zhou, 2022. "High-resolution silkworm pan-genome provides genetic insights into artificial selection and ecological adaptation," Nature Communications, Nature, vol. 13(1), pages 1-15, December.
- Cristian Groza & Carl Schwendinger-Schreck & Warren A. Cheung & Emily G. Farrow & Isabelle Thiffault & Juniper Lake & William B. Rizzo & Gilad Evrony & Tom Curran & Guillaume Bourque & Tomi Pastinen, 2024. "Pangenome graphs improve the analysis of structural variants in rare genetic diseases," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
- Yirong Shi & Yiwei Niu & Peng Zhang & Huaxia Luo & Shuai Liu & Sijia Zhang & Jiajia Wang & Yanyan Li & Xinyue Liu & Tingrui Song & Tao Xu & Shunmin He, 2023. "Characterization of genome-wide STR variation in 6487 human genomes," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
- Manon Baudic & Hiroshige Murata & Fernanda M. Bosada & Uirá Souto Melo & Takanori Aizawa & Pierre Lindenbaum & Lieve E. Maarel & Amaury Guedon & Estelle Baron & Enora Fremy & Adrien Foucal & Taisuke I, 2024. "TAD boundary deletion causes PITX2-related cardiac electrical and structural defects," Nature Communications, Nature, vol. 15(1), pages 1-15, December.
- Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
- Yash Pershad & Taralynn Mack & Hannah Poisner & Yasminka A. Jakubek & Adrienne M. Stilp & Braxton D. Mitchell & Joshua P. Lewis & Eric Boerwinkle & Ruth J. F. Loos & Nathalie Chami & Zhe Wang & Kathle, 2024. "Determinants of mosaic chromosomal alteration fitness," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
- Elena V. Feofanova & Michael R. Brown & Taryn Alkis & Astrid M. Manuel & Xihao Li & Usman A. Tahir & Zilin Li & Kevin M. Mendez & Rachel S. Kelly & Qibin Qi & Han Chen & Martin G. Larson & Rozenn N. L, 2023. "Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
- Liyuan Zhou & Qiongzi Qiu & Qing Zhou & Jianwei Li & Mengqian Yu & Kezhen Li & Lingling Xu & Xiaohui Ke & Haiming Xu & Bingjian Lu & Hui Wang & Weiguo Lu & Pengyuan Liu & Yan Lu, 2022. "Long-read sequencing unveils high-resolution HPV integration and its oncogenic progression in cervical cancer," Nature Communications, Nature, vol. 13(1), pages 1-18, December.
- Yu Chen & Amy Y. Wang & Courtney A. Barkley & Yixin Zhang & Xinyang Zhao & Min Gao & Mick D. Edmonds & Zechen Chong, 2023. "Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
- Jinhyun Kim & Sungsik Kim & Huiran Yeom & Seo Woo Song & Kyoungseob Shin & Sangwook Bae & Han Suk Ryu & Ji Young Kim & Ahyoun Choi & Sumin Lee & Taehoon Ryu & Yeongjae Choi & Hamin Kim & Okju Kim & Yu, 2023. "Barcoded multiple displacement amplification for high coverage sequencing in spatial genomics," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
- Parsa Akbari & Olukayode A. Sosina & Jonas Bovijn & Karl Landheer & Jonas B. Nielsen & Minhee Kim & Senem Aykul & Tanima De & Mary E. Haas & George Hindy & Nan Lin & Ian R. Dinsmore & Jonathan Z. Luo , 2022. "Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
- Injeong Shim & Hiroyuki Kuwahara & NingNing Chen & Mais O. Hashem & Lama AlAbdi & Mohamed Abouelhoda & Hong-Hee Won & Pradeep Natarajan & Patrick T. Ellinor & Amit V. Khera & Xin Gao & Fowzan S. Alkur, 2023. "Clinical utility of polygenic scores for cardiometabolic disease in Arabs," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
- Yingyan Yu & Zhen Zhang & Xiaorui Dong & Ruixin Yang & Zhongqu Duan & Zhen Xiang & Jun Li & Guichao Li & Fazhe Yan & Hongzhang Xue & Du Jiao & Jinyuan Lu & Huimin Lu & Wenmin Zhang & Yangzhen Wei & Sh, 2022. "Pangenomic analysis of Chinese gastric cancer," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
- Mateus H. Gouveia & Amy R. Bentley & Thiago P. Leal & Eduardo Tarazona-Santos & Carlos D. Bustamante & Adebowale A. Adeyemo & Charles N. Rotimi & Daniel Shriner, 2023. "Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
- H. Serhat Tetikol & Deniz Turgut & Kubra Narci & Gungor Budak & Ozem Kalay & Elif Arslan & Sinem Demirkaya-Budak & Alexey Dolgoborodov & Duygu Kabakci-Zorlu & Vladimir Semenyuk & Amit Jain & Brandi N., 2022. "Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis," Nature Communications, Nature, vol. 13(1), pages 1-11, December.
- Ramesh Rajaby & Dong-Xu Liu & Chun Hang Au & Yuen-Ting Cheung & Amy Yuet Ting Lau & Qing-Yong Yang & Wing-Kin Sung, 2023. "INSurVeyor: improving insertion calling from short read sequencing data," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
- Zihuai He & Linxi Liu & Michael E. Belloy & Yann Guen & Aaron Sossin & Xiaoxia Liu & Xinran Qi & Shiyang Ma & Prashnna K. Gyawali & Tony Wyss-Coray & Hua Tang & Chiara Sabatti & Emmanuel Candès & Mich, 2022. "GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies," Nature Communications, Nature, vol. 13(1), pages 1-16, December.
- Xue Gao & Sheng Wang & Yan-Fen Wang & Shuang Li & Shi-Xin Wu & Rong-Ge Yan & Yi-Wen Zhang & Rui-Dong Wan & Zhen He & Ren-De Song & Xin-Quan Zhao & Dong-Dong Wu & Qi-En Yang, 2022. "Long read genome assemblies complemented by single cell RNA-sequencing reveal genetic and cellular mechanisms underlying the adaptive evolution of yak," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
Corrections
All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-35354-7. See general information about how to correct material in RePEc.
If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.
If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .
If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.
For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .
Please note that corrections may take a couple of weeks to filter through the various RePEc services.