Skip to main content

Articles

Page 10 of 37

  2. The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual dis...

    Authors: Silva Kasela, Victor E. Ortega, Molly Martorella, Suresh Garudadri, Jenna Nguyen, Elizabeth Ampleford, Anu Pasanen, Srilaxmi Nerella, Kristina L. Buschur, Igor Z. Barjaktarevic, R. Graham Barr, Eugene R. Bleecker, Russell P. Bowler, Alejandro P. Comellas, Christopher B. Cooper, David J. Couper…
    Citation: Genome Medicine 2021 13:66
    Content type: Research Published on:

  3. Preclinical studies and early clinical trials have shown that targeting cancer neoantigens is a promising approach towards the development of personalized cancer immunotherapies. DNA vaccines can be rapidly an...

    Authors: Lijin Li, Xiuli Zhang, Xiaoli Wang, Samuel W. Kim, John M. Herndon, Michelle K. Becker-Hapak, Beatriz M. Carreno, Nancy B. Myers, Mark A. Sturmoski, Michael D. McLellan, Christopher A. Miller, Tanner M. Johanns, Benjamin R. Tan, Gavin P. Dunn, Timothy P. Fleming, Ted H. Hansen…
    Citation: Genome Medicine 2021 13:56
    Content type: Research Published on:

  4. Immunosuppressive and anti-cytokine treatment may have a protective effect for patients with COVID-19. Understanding the immune cell states shared between COVID-19 and other inflammatory diseases with establis...

    Authors: Fan Zhang, Joseph R. Mears, Lorien Shakib, Jessica I. Beynor, Sara Shanaj, Ilya Korsunsky, Aparna Nathan, Laura T. Donlin and Soumya Raychaudhuri
    Citation: Genome Medicine 2021 13:64
    Content type: Research Published on:

  5. With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–ph...

    Authors: Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda…
    Citation: Genome Medicine 2021 13:63
    Content type: Research Published on:

  6. The genome of SARS-CoV-2 is susceptible to mutations during viral replication due to the errors generated by RNA-dependent RNA polymerases. These mutations enable the SARS-CoV-2 to evolve into new strains. Vir...

    Authors: Billy T. Lau, Dmitri Pavlichin, Anna C. Hooker, Alison Almeda, Giwon Shin, Jiamin Chen, Malaya K. Sahoo, Chun Hong Huang, Benjamin A. Pinsky, Ho Joon Lee and Hanlee P. Ji
    Citation: Genome Medicine 2021 13:62
    Content type: Research Published on:

  7. Antimicrobial-resistant (AMR) Neisseria gonorrhoeae is an urgent threat to public health, as strains resistant to at least one of the two last-line antibiotics used in empiric therapy of gonorrhoea, ceftriaxone a...

    Authors: Leonor Sánchez-Busó, Corin A. Yeats, Benjamin Taylor, Richard J. Goater, Anthony Underwood, Khalil Abudahab, Silvia Argimón, Kevin C. Ma, Tatum D. Mortimer, Daniel Golparian, Michelle J. Cole, Yonatan H. Grad, Irene Martin, Brian H. Raphael, William M. Shafer, Katy Town…
    Citation: Genome Medicine 2021 13:61
    Content type: Research Published on:

  8. Currently, over half of breast cancer cases are unrelated to known risk factors, highlighting the importance of discovering other cancer-promoting factors. Since crosstalk between gut microbes and host immunit...

    Authors: Alice Tzeng, Naseer Sangwan, Margaret Jia, Chin-Chih Liu, Karen S. Keslar, Erinn Downs-Kelly, Robert L. Fairchild, Zahraa Al-Hilli, Stephen R. Grobmyer and Charis Eng
    Citation: Genome Medicine 2021 13:60
    Content type: Research Published on:

  9. Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant...

    Authors: Federica Perrone, Rita Cacace, Julie van der Zee and Christine Van Broeckhoven
    Citation: Genome Medicine 2021 13:59
    Content type: Review Published on:

  10. Aberrant changes in epigenetic mechanisms such as histone modifications play an important role in cancer progression. PRMT1 which triggers asymmetric dimethylation of histone H4 on arginine 3 (H4R3me2a) is upr...

    Authors: Bing Yao, Tao Gui, Xiangwei Zeng, Yexuan Deng, Zhi Wang, Ying Wang, Dongjun Yang, Qixiang Li, Peipei Xu, Ruifeng Hu, Xinyu Li, Bing Chen, Jin Wang, Ke Zen, Haitao Li, Melissa J. Davis…
    Citation: Genome Medicine 2021 13:58
    Content type: Research Published on:

    The Author Correction to this article has been published in Genome Medicine 2021 13:154

  11. Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells—cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced...

    Authors: Menglong Chen, Hui Shi, Shixue Gou, Xiaomin Wang, Lei Li, Qin Jin, Han Wu, Huili Zhang, Yaqin Li, Liang Wang, Huan Li, Jinfu Lin, Wenjing Guo, Zhiwu Jiang, Xiaoyu Yang, Anding Xu…
    Citation: Genome Medicine 2021 13:57
    Content type: Research Published on:

  12. ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organizati...

    Authors: Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski…
    Citation: Genome Medicine 2021 13:55
    Content type: Research Published on:

  13. Nursing home residents have increased rates of intestinal colonisation with multidrug-resistant organisms (MDROs). We assessed the colonisation and spread of MDROs among this population, determined clinical ri...

    Authors: Quinten R. Ducarmon, Elisabeth M. Terveer, Sam Nooij, Michelle N. Bloem, Karuna E. W. Vendrik, Monique A. A. Caljouw, Ingrid M. J. G. Sanders, Sofie M. van Dorp, Man C. Wong, Romy D. Zwittink and Ed J. Kuijper
    Citation: Genome Medicine 2021 13:54
    Content type: Research Published on:

  14. It is well-established that cancer treatment substantially increases the risk of long-term adverse health outcomes among childhood cancer survivors. However, there is limited research on the underlying mechani...

    Authors: Nan Song, Chia-Wei Hsu, Haitao Pan, Yinan Zheng, Lifang Hou, Jin-ah Sim, Zhenghong Li, Heather Mulder, John Easton, Emily Walker, Geoffrey Neale, Carmen L. Wilson, Kirsten K. Ness, Kevin R. Krull, Deo Kumar Srivastava, Yutaka Yasui…
    Citation: Genome Medicine 2021 13:53
    Content type: Research Published on:

  15. The hospital-adapted A1 group of Enterococcus faecium remains an organism of significant concern in the context of drug-resistant hospital-associated infections. How this pathogen evolves and disseminates remains...

    Authors: Sebastiaan J. van Hal, Rob J. L. Willems, Theodore Gouliouris, Susan A. Ballard, Teresa M. Coque, Anette M. Hammerum, Kristin Hegstad, Hendrik T. Westh, Benjamin P. Howden, Surbhi Malhotra-Kumar, Guido Werner, Katsunori Yanagihara, Ashlee M. Earl, Katherine E. Raven, Jukka Corander and Rory Bowden
    Citation: Genome Medicine 2021 13:52
    Content type: Research Published on:

  16. Antimicrobial resistance in Neisseria gonorrhoeae is a global health concern. Strains from two internationally circulating sequence types, ST-7363 and ST-1901, have acquired resistance to third-generation cephalo...

    Authors: Koji Yahara, Kevin C. Ma, Tatum D. Mortimer, Ken Shimuta, Shu-ichi Nakayama, Aki Hirabayashi, Masato Suzuki, Michio Jinnai, Hitomi Ohya, Toshiro Kuroki, Yuko Watanabe, Mitsuru Yasuda, Takashi Deguchi, Vegard Eldholm, Odile B. Harrison, Martin C. J. Maiden…
    Citation: Genome Medicine 2021 13:51
    Content type: Research Published on:

  17. Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of ...

    Authors: Daniela M. DeCristo, Laura V. Milko, Julianne M. O’Daniel, Ann Katherine M. Foreman, Lonna F. Mollison, Bradford C. Powell, Cynthia M. Powell and Jonathan S. Berg
    Citation: Genome Medicine 2021 13:50
    Content type: Research Published on:

  18. T cells generated from thymopoiesis are essential for the immune system, and recent single-cell studies have contributed to our understanding of the development of thymocytes at the genetic and epigenetic leve...

    Authors: Young Li, Kun Li, Lianbang Zhu, Bin Li, Dandan Zong, Pengfei Cai, Chen Jiang, Pengcheng Du, Jun Lin and Kun Qu
    Citation: Genome Medicine 2021 13:49
    Content type: Research Published on:

  19. Childhood obesity is reported to be associated with the risk of many diseases in adulthood. However, observational studies cannot fully account for confounding factors. We aimed to systematically assess the ca...

    Authors: Shan-Shan Dong, Kun Zhang, Yan Guo, Jing-Miao Ding, Yu Rong, Jun-Cheng Feng, Shi Yao, Ruo-Han Hao, Feng Jiang, Jia-Bin Chen, Hao Wu, Xiao-Feng Chen and Tie-Lin Yang
    Citation: Genome Medicine 2021 13:48
    Content type: Research Published on:

  20. Neuroinflammation and immune responses occurring minutes to hours after stroke are associated with brain injury after acute ischemic stroke (AIS). PPARγ coactivator-1α (PGC-1α), as a master coregulator of gene...

    Authors: Bin Han, Wei Jiang, Pan Cui, Kai Zheng, Chun Dang, Junjie Wang, He Li, Lin Chen, Rongxin Zhang, Qing Mei Wang, Zhenyu Ju and Junwei Hao
    Citation: Genome Medicine 2021 13:47
    Content type: Research Published on:

  21. DNA sequencing has unveiled extensive tumor heterogeneity in several different cancer types, with many exhibiting diverse subclonal populations. Identifying and tracing mutations throughout the expansion and p...

    Authors: Thomas J. Nicholas, Michael J. Cormier, Xiaomeng Huang, Yi Qiao, Gabor T. Marth and Aaron R. Quinlan
    Citation: Genome Medicine 2021 13:46
    Content type: Software Published on:

  22. Drawing genotype-to-phenotype maps in tumors is of paramount importance for understanding tumor heterogeneity. Assignment of single cells to their tumor clones of origin can be approached by matching the genot...

    Authors: Shadi Darvish Shafighi, Szymon M. Kiełbasa, Julieta Sepúlveda-Yáñez, Ramin Monajemi, Davy Cats, Hailiang Mei, Roberta Menafra, Susan Kloet, Hendrik Veelken, Cornelis A.M. van Bergen and Ewa Szczurek
    Citation: Genome Medicine 2021 13:45
    Content type: Research Published on:

  23. We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since m...

    Authors: Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene…
    Citation: Genome Medicine 2021 13:40
    Content type: Research Published on:

  24. Prognosis evaluation of advanced breast cancer and therapeutic strategy are mostly based on clinical features of advanced disease and molecular profiling of the primary tumor. Very few studies have evaluated t...

    Authors: Céline Callens, Keltouma Driouch, Anaïs Boulai, Zakia Tariq, Aurélie Comte, Frédérique Berger, Lisa Belin, Ivan Bièche, Vincent Servois, Patricia Legoix, Virginie Bernard, Sylvain Baulande, Walid Chemlali, François-Clément Bidard, Virginie Fourchotte, Anne Vincent- Salomon…
    Citation: Genome Medicine 2021 13:44
    Content type: Research Published on:

  25. ChAdOx1 nCoV-19 is a recombinant adenovirus vaccine against SARS-CoV-2 that has passed phase III clinical trials and is now in use across the globe. Although replication-defective in normal cells, 28 kbp of ad...

    Authors: Abdulaziz Almuqrin, Andrew D. Davidson, Maia Kavanagh Williamson, Philip A. Lewis, Kate J. Heesom, Susan Morris, Sarah C. Gilbert and David A. Matthews
    Citation: Genome Medicine 2021 13:43
    Content type: Research Published on:

  26. Contemporary deep learning approaches show cutting-edge performance in a variety of complex prediction tasks. Nonetheless, the application of deep learning in healthcare remains limited since deep learning met...

    Authors: Hryhorii Chereda, Annalen Bleckmann, Kerstin Menck, Júlia Perera-Bel, Philip Stegmaier, Florian Auer, Frank Kramer, Andreas Leha and Tim Beißbarth
    Citation: Genome Medicine 2021 13:42
    Content type: Research Published on:

  28. Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threoni...

    Authors: Roberto Bonelli, Brendan R. E. Ansell, Luca Lotta, Thomas Scerri, Traci E. Clemons, Irene Leung, Tunde Peto, Alan C. Bird, Ferenc B. Sallo, Claudia Langenberg and Melanie Bahlo
    Citation: Genome Medicine 2021 13:39
    Content type: Research Published on:

  29. Whether elevated blood pressure (BP) is a modifiable risk factor for atrial fibrillation (AF) is not established. We tested (1) whether the association between BP and risk of AF is causal, (2) whether it varie...

    Authors: Milad Nazarzadeh, Ana-Catarina Pinho-Gomes, Zeinab Bidel, Dexter Canoy, Abbas Dehghan, Karl Smith Byrne, Derrick A. Bennett, George Davey Smith and Kazem Rahimi
    Citation: Genome Medicine 2021 13:38
    Content type: Research Published on:

  30. Type 2 diabetes (T2D), a multifactorial disease influenced by host genetics and environmental factors, is the most common endocrine disease. Several studies have shown that the gut microbiota as a close-up env...

    Authors: Camila Alvarez-Silva, Alireza Kashani, Tue Haldor Hansen, Nishal Kumar Pinna, Ranjit Mohan Anjana, Anirban Dutta, Shruti Saxena, Julie Støy, Ulla Kampmann, Trine Nielsen, Torben Jørgensen, Visvanathan Gnanaprakash, Rameshkumar Gnanavadivel, Aswath Sukumaran, Coimbatore Subramanian Shanthi Rani, Kristine Færch…
    Citation: Genome Medicine 2021 13:37
    Content type: Research Published on:

  31. Recent studies have indicated an association of gut microbiota and microbial metabolites with type 2 diabetes mellitus (T2D). However, large-scale investigation of the gut microbiota of “prediabetic” (PD) subj...

    Authors: Nishal Kumar Pinna, Ranjit Mohan Anjana, Shruti Saxena, Anirban Dutta, Visvanathan Gnanaprakash, Gnanavadivel Rameshkumar, Sukumaran Aswath, Srividhya Raghavan, Coimbatore Subramanian Shanthi Rani, Venkatesan Radha, Muthuswamy Balasubramanyam, Archana Pant, Trine Nielsen, Torben Jørgensen, Kristine Færch, Alireza Kashani…
    Citation: Genome Medicine 2021 13:36
    Content type: Research Published on:

  32. Immunoglobulin G4-related disease (IgG4-RD) and systemic sclerosis (SSc) are rare autoimmune diseases characterized by the presence of CD4+ cytotoxic T cells in the blood as well as inflammation and fibrosis i...

    Authors: Damian R. Plichta, Juhi Somani, Matthieu Pichaud, Zachary S. Wallace, Ana D. Fernandes, Cory A. Perugino, Harri Lähdesmäki, John H. Stone, Hera Vlamakis, Daniel C. Chung, Dinesh Khanna, Shiv Pillai and Ramnik J. Xavier
    Citation: Genome Medicine 2021 13:35
    Content type: Research Published on:

  33. Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been i...

    Authors: William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille…
    Citation: Genome Medicine 2021 13:34
    Content type: Research Published on:

  34. Clinical-grade whole-genome sequencing (cWGS) has the potential to become the standard of care within the clinic because of its breadth of coverage and lack of bias towards certain regions of the genome. Color...

    Authors: Agata Stodolna, Miao He, Mahesh Vasipalli, Zoya Kingsbury, Jennifer Becq, Joanne D. Stockton, Mark P. Dilworth, Jonathan James, Toju Sillo, Daniel Blakeway, Stephen T. Ward, Tariq Ismail, Mark T. Ross and Andrew D. Beggs
    Citation: Genome Medicine 2021 13:33
    Content type: Research Published on:

  35. Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false pos...

    Authors: Andre E. Minoche, Ben Lundie, Greg B. Peters, Thomas Ohnesorg, Mark Pinese, David M. Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E. Dinger and Mark J. Cowley
    Citation: Genome Medicine 2021 13:32
    Content type: Method Published on:

  36. Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are c...

    Authors: Philipp Rentzsch, Max Schubach, Jay Shendure and Martin Kircher
    Citation: Genome Medicine 2021 13:31
    Content type: Research Published on:

  37. Since early February 2021, the causative agent of COVID-19, SARS-CoV-2, has infected over 104 million people with more than 2 million deaths according to official reports. The key to understanding the biology ...

    Authors: Yanqun Wang, Daxi Wang, Lu Zhang, Wanying Sun, Zhaoyong Zhang, Weijun Chen, Airu Zhu, Yongbo Huang, Fei Xiao, Jinxiu Yao, Mian Gan, Fang Li, Ling Luo, Xiaofang Huang, Yanjun Zhang, Sook-san Wong…
    Citation: Genome Medicine 2021 13:30
    Content type: Research Published on:

  38. The clinical utility of personal genomic information in identifying individuals at increased risks for dyslipidemia and cardiovascular diseases remains unclear.

    Authors: Claudia H. T. Tam, Cadmon K. P. Lim, Andrea O. Y. Luk, Alex C. W. Ng, Heung-man Lee, Guozhi Jiang, Eric S. H. Lau, Baoqi Fan, Raymond Wan, Alice P. S. Kong, Wing-hung Tam, Risa Ozaki, Elaine Y. K. Chow, Ka-fai Lee, Shing-chung Siu, Grace Hui…
    Citation: Genome Medicine 2021 13:29
    Content type: Research Published on:

  39. Once antibiotic-resistant bacteria become established within the gut microbiota, they can cause infections in the host and be transmitted to other people and the environment. Currently, there are no effective ...

    Authors: Amy Langdon, Drew J. Schwartz, Christopher Bulow, Xiaoqing Sun, Tiffany Hink, Kimberly A. Reske, Courtney Jones, Carey-Ann D. Burnham, Erik R. Dubberke and Gautam Dantas
    Citation: Genome Medicine 2021 13:28
    Content type: Research Published on:

  40. The incidence of colorectal cancer (CRC) is increasing in developing countries, yet limited research on the CRC- associated microbiota has been conducted in these areas, in part due to scarce resources, facili...

    Authors: Caroline Young, Henry M. Wood, Ramakrishnan Ayloor Seshadri, Pham Van Nang, Carlos Vaccaro, Luis Contreras Melendez, Mayilvahanan Bose, Mai Van Doi, Tamara Alejandra Piñero, Camilo Tapia Valladares, Julieta Arguero, Alba Fuentes Balaguer, Kelsey N. Thompson, Yan Yan, Curtis Huttenhower and Philip Quirke
    Citation: Genome Medicine 2021 13:27
    Content type: Research Published on:

  42. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Cheng-Cao Sun, Wei Zhu, Shu-Jun Li, Wei Hu, Jian Zhang, Yue Zhuo, Han Zhang, Juan Wang, Yu Zhang, Shao-Xin Huang, Qi-Qiang He and De-Jia Li
    Citation: Genome Medicine 2021 13:25
    Content type: Correction Published on:

    The original article was published in Genome Medicine 2020 12:77

  43. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Tonći Šuštić, Sake van Wageningen, Evert Bosdriesz, Robert J. D. Reid, John Dittmar, Cor Lieftink, Roderick L. Beijersbergen, Lodewyk F. A. Wessels, Rodney Rothstein and René Bernards
    Citation: Genome Medicine 2021 13:24
    Content type: Correction Published on:

    The original article was published in Genome Medicine 2018 10:90

  46. We present CoronaHiT, a platform and throughput flexible method for sequencing SARS-CoV-2 genomes (≤ 96 on MinION or > 96 on Illumina NextSeq) depending on changing requirements experienced during the pandemic...

    Authors: Dave J. Baker, Alp Aydin, Thanh Le-Viet, Gemma L. Kay, Steven Rudder, Leonardo de Oliveira Martins, Ana P. Tedim, Anastasia Kolyva, Maria Diaz, Nabil-Fareed Alikhan, Lizzie Meadows, Andrew Bell, Ana Victoria Gutierrez, Alexander J. Trotter, Nicholas M. Thomson, Rachel Gilroy…
    Citation: Genome Medicine 2021 13:21
    Content type: Method Published on:

  47. tRNA-derived small RNAs (tDRs), which are widely distributed in human tissues including blood and urine, play an important role in the progression of cancer. However, the expression of tDRs in colorectal cance...

    Authors: Yingmin Wu, Xiangling Yang, Guanmin Jiang, Haisheng Zhang, Lichen Ge, Feng Chen, Jiexin Li, Huanliang Liu and Hongsheng Wang
    Citation: Genome Medicine 2021 13:20
    Content type: Research Published on:

  48. Basal cell carcinoma (BCC) of the skin is the most common form of human cancer, with more than 90% of tumours presenting with clear genetic activation of the Hedgehog pathway. However, polygenic risk factors a...

    Authors: Christelle Adolphe, Angli Xue, Atefeh Taherian Fard, Laura A. Genovesi, Jian Yang and Brandon J. Wainwright
    Citation: Genome Medicine 2021 13:19
    Content type: Research Published on:

  49. Noninvasive prenatal testing (NIPT) of recessive monogenic diseases depends heavily on knowing the correct parental haplotypes. However, the currently used family-based haplotyping method requires pedigrees, a...

    Authors: Chao Chen, Ru Li, Jun Sun, Yaping Zhu, Lu Jiang, Jian Li, Fang Fu, Junhui Wan, Fengyu Guo, Xiaoying An, Yaoshen Wang, Linlin Fan, Yan Sun, Xiaosen Guo, Sumin Zhao, Wanyang Wang…
    Citation: Genome Medicine 2021 13:18
    Content type: Research Published on:

  50. Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic...

    Authors: Noura S. Abul-Husn, Emily R. Soper, Giovanna T. Braganza, Jessica E. Rodriguez, Natasha Zeid, Sinead Cullina, Dean Bobo, Arden Moscati, Amanda Merkelson, Ruth J. F. Loos, Judy H. Cho, Gillian M. Belbin, Sabrina A. Suckiel and Eimear E. Kenny
    Citation: Genome Medicine 2021 13:17
    Content type: Research Published on:
Submit manuscript

Follow

Annual Journal Metrics

  • 2022 Citation Impact
    12.3 - 2-year Impact Factor
    13.8 - 5-year Impact Factor
    2.422 - SNIP (Source Normalized Impact per Paper)
    4.851 - SJR (SCImago Journal Rank)

    2023 Speed
    9 days submission to first editorial decision for all manuscripts (Median)
    185 days submission to accept (Median)

    2023 Usage 
    2,331,772 downloads
    4,916 Altmetric mentions

  • Peer Review Taxonomy

    This journal is participating in a pilot of NISO/STM's Working Group on Peer Review Taxonomy, to identify and standardize definitions and terminology in peer review practices in order to make the peer review process for articles and journals more transparent. Further information on the pilot is available here. 

    The following summary describes the peer review process for this journal:

    • Identity transparency: Single anonymized
    • Reviewer interacts with: Editor
    • Review information published: None

    We welcome your feedback on this Peer Review Taxonomy Pilot. Please can you take the time to complete this short survey.

Genome Medicine

ISSN: 1756-994X

Contact us