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  1. The rapid advancement of single-cell transcriptomics in neurology has allowed for profiling of post-mortem human brain tissue across multiple diseases. Over the past 3 years, several studies have examined tiss...

    Authors: Tain Luquez, Pallavi Gaur, Ivy M Kosater, Matti Lam, Dylan I Lee, Jason Mares, Fahad Paryani, Archana Yadav and Vilas Menon
    Citation: Genome Medicine 2022 14:136
  2. COVID-19 manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic and mild to severe and critical. Severe and critical COVID-19 patients are characterized by marked changes in the myelo...

    Authors: Gerard Godoy-Tena, Anis Barmada, Octavio Morante-Palacios, Carlos de la Calle-Fabregat, Ricardo Martins-Ferreira, Anna G. Ferreté-Bonastre, Laura Ciudad, Adolfo Ruiz-Sanmartín, Mónica Martínez-Gallo, Ricard Ferrer, Juan Carlos Ruiz-Rodriguez, Javier Rodríguez-Ubreva, Roser Vento-Tormo and Esteban Ballestar
    Citation: Genome Medicine 2022 14:134
  3. As circulating DNA (cirDNA) is mainly detected as mononucleosome-associated circulating DNA (mono-N cirDNA) in blood, apoptosis has until now been considered as the main source of cirDNA. The mechanism of cirD...

    Authors: Ekaterina Pisareva, Lucia Mihalovičová, Brice Pastor, Andrei Kudriavtsev, Alexia Mirandola, Thibault Mazard, Stephanie Badiou, Ulrich Maus, Lena Ostermann, Julia Weinmann-Menke, Elmo W. I. Neuberger, Perikles Simon and Alain R. Thierry
    Citation: Genome Medicine 2022 14:135
  4. Neuropsychiatric disorders afflict a large portion of the global population and constitute a significant source of disability worldwide. Although Genome-wide Association Studies (GWAS) have identified many dis...

    Authors: Shuang Liu, Hyejung Won, Declan Clarke, Nana Matoba, Saniya Khullar, Yudi Mu, Daifeng Wang and Mark Gerstein
    Citation: Genome Medicine 2022 14:133
  5. Dyslipidemia is a major risk factor for cardiovascular disease, and diabetes impacts the lipid metabolism through multiple pathways. In addition to the standard lipid measurements, apolipoprotein concentration...

    Authors: Niina Sandholm, Ronja Hotakainen, Jani K. Haukka, Fanny Jansson Sigfrids, Emma H. Dahlström, Anni A. Antikainen, Erkka Valo, Anna Syreeni, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Valma Harjutsalo, Carol Forsblom and Per-Henrik Groop
    Citation: Genome Medicine 2022 14:132
  6. The uptake of exome/genome sequencing has introduced unexpected testing results (incidental findings) that have become a major challenge for both testing laboratories and providers. While the American College ...

    Authors: Kevin M. Bowling, Michelle L. Thompson, Melissa A. Kelly, Sarah Scollon, Anne M. Slavotinek, Bradford C. Powell, Brian M. Kirmse, Laura G. Hendon, Kyle B. Brothers, Bruce R. Korf, Gregory M. Cooper, John M. Greally and Anna C. E. Hurst
    Citation: Genome Medicine 2022 14:131
  7. Squamous cell carcinoma (SqCC) is a subtype of non-small cell lung cancer for which patient prognosis remains poor. The extracellular matrix (ECM) is critical in regulating cell behavior; however, its importan...

    Authors: Amelia L. Parker, Elise Bowman, Adriana Zingone, Brid M. Ryan, Wendy A. Cooper, Maija Kohonen-Corish, Curtis C. Harris and Thomas R. Cox
    Citation: Genome Medicine 2022 14:126
  8. There is large individual variation in both clinical presentation and progression between Parkinson’s disease patients. Generation of deeply and longitudinally phenotyped patient cohorts has enormous potential...

    Authors: Cynthia Sandor, Stephanie Millin, Andrew Dahl, Ann-Kathrin Schalkamp, Michael Lawton, Leon Hubbard, Nabila Rahman, Nigel Williams, Yoav Ben-Shlomo, Donald G. Grosset, Michele T. Hu, Jonathan Marchini and Caleb Webber
    Citation: Genome Medicine 2022 14:129
  9. Authors: Ruth Johnson, Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu, Sergey Knyazev, Tommer Schwarz, Malika Freund, Lingyu Zhan, Kathryn S. Burch, Christa Caggiano, Brian Hill, Nadav Rakocz, Brunilda Balliu, Christopher T. Denny…
    Citation: Genome Medicine 2022 14:128

    The original article was published in Genome Medicine 2022 14:104

  10. Diffuse pleural mesothelioma (DPM) is an aggressive malignancy that, despite recent treatment advances, has unacceptably poor outcomes. Therapeutic research in DPM is inhibited by a paucity of preclinical mode...

    Authors: Michael Offin, Jennifer L. Sauter, Sam E. Tischfield, Jacklynn V. Egger, Shweta Chavan, Nisargbhai S. Shah, Parvathy Manoj, Katia Ventura, Viola Allaj, Elisa de Stanchina, William Travis, Marc Ladanyi, Andreas Rimner, Valerie W. Rusch, Prasad S. Adusumilli, John T. Poirier…
    Citation: Genome Medicine 2022 14:127
  11. Molecular measurements of the genome, the transcriptome, and the epigenome, often termed multi-omics data, provide an in-depth view on biological systems and their integration is crucial for gaining insights i...

    Authors: Johann S. Hawe, Ashis Saha, Melanie Waldenberger, Sonja Kunze, Simone Wahl, Martina Müller-Nurasyid, Holger Prokisch, Harald Grallert, Christian Herder, Annette Peters, Konstantin Strauch, Fabian J. Theis, Christian Gieger, John Chambers, Alexis Battle and Matthias Heinig
    Citation: Genome Medicine 2022 14:125
  12. Ganciclovir (GCV) is widely used in solid organ and haematopoietic stem cell transplant patients for prophylaxis and treatment of cytomegalovirus. It has long been considered a mutagen and carcinogen. However,...

    Authors: Hu Fang, Helen H. N. Yan, Rebecca A. Bilardi, Christoffer Flensburg, Haocheng Yang, Jayne A. Barbour, Hoi Cheong Siu, Michelle Turski, Edward Chew, Zhen Xu, Siu T. Lam, Rakesh Sharma, Mengya Xu, Junshi Li, Ho W. Ip, Carol Y. M. Cheung…
    Citation: Genome Medicine 2022 14:124
  13. Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our e...

    Authors: Fang Fu, Ru Li, Qiuxia Yu, Dan Wang, Qiong Deng, Lushan Li, Tingying Lei, Guilan Chen, Zhiqiang Nie, Xin Yang, Jin Han, Min Pan, Li Zhen, Yongling Zhang, Xiangyi Jing, Fucheng Li…
    Citation: Genome Medicine 2022 14:123
  14. The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is ...

    Authors: Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington…
    Citation: Genome Medicine 2022 14:122
  15. Cancer recurrence after tumor resection in early-stage non-small cell lung cancer (NSCLC) is common, yet difficult to predict. The lung microbiota and systemic immunity may be important modulators of risk for ...

    Authors: Brandilyn A. Peters, Harvey I. Pass, Robert D. Burk, Xiaonan Xue, Chandra Goparaju, Christopher C. Sollecito, Evan Grassi, Leopoldo N. Segal, Jun-Chieh J. Tsay, Richard B. Hayes and Jiyoung Ahn
    Citation: Genome Medicine 2022 14:121
  16. Drug resistance continues to be a major limiting factor across diverse anti-cancer therapies. Contributing to the complexity of this challenge is cancer plasticity, in which one cancer subtype switches to anot...

    Authors: Heba Alkhatib, Ariel M. Rubinstein, Swetha Vasudevan, Efrat Flashner-Abramson, Shira Stefansky, Sangita Roy Chowdhury, Solomon Oguche, Tamar Peretz-Yablonsky, Avital Granit, Zvi Granot, Ittai Ben-Porath, Kim Sheva, Jon Feldman, Noa E. Cohen, Amichay Meirovitz and Nataly Kravchenko-Balasha
    Citation: Genome Medicine 2022 14:120
  17. Cervical screening is transitioning from primary cytology to primary human papillomavirus (HPV) testing. HPV testing is highly sensitive but there is currently no high-specificity triage method for colposcopy ...

    Authors: James E. Barrett, Karin Sundström, Allison Jones, Iona Evans, Jiangrong Wang, Chiara Herzog, Joakim Dillner and Martin Widschwendter
    Citation: Genome Medicine 2022 14:116
  18. The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associa...

    Authors: Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager, Mary E. Dickinson, Lauryl M. J. Nutter, Violeta Muñoz-Fuentes, Chih-Wei Hsu, Ignatia B. Van den Veyver, Ann M. Flenniken, Colin McKerlie, Stephen A. Murray, Lydia Teboul, Jason D. Heaney, K. C. Kent Lloyd, Louise Lanoue, Robert E. Braun…
    Citation: Genome Medicine 2022 14:119
  19. Pathway enrichment analysis (PEA) is a common method for exploring functions of hundreds of genes and identifying disease-risk pathways. Moreover, different pathways exert their functions through crosstalk. Ho...

    Authors: Haizhou Liu, Mengqin Yuan, Ramkrishna Mitra, Xu Zhou, Min Long, Wanyue Lei, Shunheng Zhou, Yu-e Huang, Fei Hou, Christine M. Eischen and Wei Jiang
    Citation: Genome Medicine 2022 14:118
  20. Polygenic risk scores (PRS), which offer information about genomic risk for common diseases, have been proposed for clinical implementation. The ways in which PRS information may influence a patient’s health t...

    Authors: Anna C. F. Lewis, Emma F. Perez, Anya E. R. Prince, Hana R. Flaxman, Lizbeth Gomez, Deanna G. Brockman, Paulette D. Chandler, Benjamin J. Kerman, Matthew S. Lebo, Jordan W. Smoller, Scott T. Weiss, Carrie L. Blout Zawatksy, James B. Meigs, Robert C. Green, Jason L. Vassy and Elizabeth W. Karlson
    Citation: Genome Medicine 2022 14:114
  21. In medical genetics, discovery and characterization of disease trait contributory genes and alleles depends on genetic reasoning, study design, and patient ascertainment; we suggest a segmental haploid genetic...

    Authors: Bo Yuan, Katharina V. Schulze, Nurit Assia Batzir, Jefferson Sinson, Hongzheng Dai, Wenmiao Zhu, Francia Bocanegra, Chin-To Fong, Jimmy Holder, Joanne Nguyen, Christian P. Schaaf, Yaping Yang, Weimin Bi, Christine Eng, Chad Shaw, James R. Lupski…
    Citation: Genome Medicine 2022 14:113
  22. Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry.

    Authors: Charles Washington III, Matthew Dapas, Arjun Biddanda, Kevin M. Magnaye, Ivy Aneas, Britney A. Helling, Brooke Szczesny, Meher Preethi Boorgula, Margaret A. Taub, Eimear Kenny, Rasika A. Mathias, Kathleen C. Barnes, Gurjit K. Khurana Hershey, Carolyn M. Kercsmar, Jessica D. Gereige, Melanie Makhija…
    Citation: Genome Medicine 2022 14:112
  23. Although anti-apoptotic proteins of the B-cell lymphoma-2 (BCL2) family have been utilized as therapeutic targets in acute myeloid leukaemia (AML), their complicated regulatory networks make individualized the...

    Authors: Chansub Lee, Sungyoung Lee, Eunchae Park, Junshik Hong, Dong-Yeop Shin, Ja Min Byun, Hongseok Yun, Youngil Koh and Sung-Soo Yoon
    Citation: Genome Medicine 2022 14:111
  24. Treatment with tumor necrosis factor α (TNFα) antagonists in IBD patients suffers from primary non-response rates of up to 40%. Biomarkers for early prediction of therapy success are missing. We investigated t...

    Authors: Neha Mishra, Konrad Aden, Johanna I. Blase, Nathan Baran, Dora Bordoni, Florian Tran, Claudio Conrad, Diana Avalos, Charlot Jaeckel, Michael Scherer, Signe B. Sørensen, Silja H. Overgaard, Berenice Schulte, Susanna Nikolaus, Guillaume Rey, Gilles Gasparoni…
    Citation: Genome Medicine 2022 14:110
  25. Primary central nervous system lymphoma (PCNSL) is a rare lymphoma of the central nervous system, usually of diffuse large B cell phenotype. Stereotactic biopsy followed by histopathology is the diagnostic sta...

    Authors: Michael Heming, Svea Haessner, Jolien Wolbert, I-Na Lu, Xiaolin Li, Benjamin Brokinkel, Michael Müther, Markus Holling, Walter Stummer, Christian Thomas, Andreas Schulte-Mecklenbeck, Flavia de Faria, Marlon Stoeckius, Stephan Hailfinger, Georg Lenz, Kornelius Kerl…
    Citation: Genome Medicine 2022 14:109
  26. Emerging RNA viruses that target the central nervous system (CNS) lead to cognitive sequelae in survivors. Studies in humans and mice infected with West Nile virus (WNV), a re-emerging RNA virus associated wit...

    Authors: Sarah F. Rosen, Allison L. Soung, Wei Yang, Shenjian Ai, Marlene Kanmogne, Veronica A. Davé, Maxim Artyomov, Jeffrey A. Magee and Robyn S. Klein
    Citation: Genome Medicine 2022 14:108
  27. Authors: Doctor B. Sibandze, Alexander Kay, Viola Dreyer, Welile Sikhondze, Qiniso Dlamini, Andrew DiNardo, Godwin Mtetwa, Bhekumusa Lukhele, Debrah Vambe, Christoph Lange, Muyalo Glenn Dlamini, Tara Ness, Rojelio Mejia, Barbara Kalsdorf, Jan Heyckendorf, Martin Kuhns…
    Citation: Genome Medicine 2022 14:107

    The original article was published in Genome Medicine 2022 14:52

  28. Multiple glioblastoma studies have described a mesenchymal (MES) state, with each study defining the MES program by distinct sets of genes and highlighting distinct functional associations, including both immu...

    Authors: Rony Chanoch-Myers, Adi Wider, Mario L. Suva and Itay Tirosh
    Citation: Genome Medicine 2022 14:106

    The Author Correction to this article has been published in Genome Medicine 2022 14:117

  29. Renal cell carcinoma (RCC) is a heterogeneous disease comprising histologically defined subtypes. For therapy selection, precise subtype identification and individualized prognosis are mandatory, but currently...

    Authors: Florian A. Büttner, Stefan Winter, Viktoria Stühler, Steffen Rausch, Jörg Hennenlotter, Susanne Füssel, Stefan Zastrow, Matthias Meinhardt, Marieta Toma, Carmen Jerónimo, Rui Henrique, Vera Miranda-Gonçalves, Nils Kröger, Silvia Ribback, Arndt Hartmann, Abbas Agaimy…
    Citation: Genome Medicine 2022 14:105
  30. Large medical centers in urban areas, like Los Angeles, care for a diverse patient population and offer the potential to study the interplay between genetic ancestry and social determinants of health. Here, we...

    Authors: Ruth Johnson, Yi Ding, Vidhya Venkateswaran, Arjun Bhattacharya, Kristin Boulier, Alec Chiu, Sergey Knyazev, Tommer Schwarz, Malika Freund, Lingyu Zhan, Kathryn S. Burch, Christa Caggiano, Brian Hill, Nadav Rakocz, Brunilda Balliu, Christopher T. Denny…
    Citation: Genome Medicine 2022 14:104

    The Author Correction to this article has been published in Genome Medicine 2022 14:128

  31. Acute kidney injury (AKI) occurs frequently in critically ill patients and is associated with adverse outcomes. Cellular mechanisms underlying AKI and kidney cell responses to injury remain incompletely unders...

    Authors: Christian Hinze, Christine Kocks, Janna Leiz, Nikos Karaiskos, Anastasiya Boltengagen, Shuang Cao, Christopher Mark Skopnik, Jan Klocke, Jan-Hendrik Hardenberg, Helena Stockmann, Inka Gotthardt, Benedikt Obermayer, Laleh Haghverdi, Emanuel Wyler, Markus Landthaler, Sebastian Bachmann…
    Citation: Genome Medicine 2022 14:103
  32. Genomic copy number alterations commonly occur in prostate cancer and are one measure of genomic instability. The clinical implication of copy number change in advanced prostate cancer, which defines a wide sp...

    Authors: Emily Grist, Stefanie Friedrich, Christopher Brawley, Larissa Mendes, Marina Parry, Adnan Ali, Aine Haran, Alex Hoyle, Claire Gilson, Sharanpreet Lall, Leila Zakka, Carla Bautista, Alex Landless, Karolina Nowakowska, Anna Wingate, Daniel Wetterskog…
    Citation: Genome Medicine 2022 14:102
  33. Recent rapid biotechnological breakthroughs have led to the identification of complex and unique molecular features that drive malignancies. Precision medicine has exploited next-generation sequencing and matc...

    Authors: Elena Fountzilas, Apostolia M. Tsimberidou, Henry Hiep Vo and Razelle Kurzrock
    Citation: Genome Medicine 2022 14:101
  34. African ancestry is a significant risk factor for advanced prostate cancer (PCa). Mortality rates in sub-Saharan Africa are 2.5-fold greater than global averages. However, the region has largely been excluded ...

    Authors: Tingting Gong, Weerachai Jaratlerdsiri, Jue Jiang, Cali Willet, Tracy Chew, Sean M. Patrick, Ruth J. Lyons, Anne-Maree Haynes, Gabriela Pasqualim, Ilma Simoni Brum, Phillip D. Stricker, Shingai B. A. Mutambirwa, Rosemarie Sadsad, Anthony T. Papenfuss, Riana M. S. Bornman, Eva K. F. Chan…
    Citation: Genome Medicine 2022 14:100
  35. Central conventional chondrosarcoma (CS) is the most common subtype of primary malignant bone tumour in adults. Treatment options are usually limited to surgery, and prognosis is challenging. These tumours are...

    Authors: William Cross, Iben Lyskjær, Tom Lesluyes, Steven Hargreaves, Anna-Christina Strobl, Christopher Davies, Sara Waise, Shadi Hames-Fathi, Dahmane Oukrif, Hongtao Ye, Fernanda Amary, Roberto Tirabosco, Craig Gerrand, Toby Baker, David Barnes, Christopher Steele…
    Citation: Genome Medicine 2022 14:99
  36. The “HER2-low” nomenclature identifies breast carcinomas (BCs) displaying a HER2 score of 1+/2+ in immunohistochemistry and lacking ERBB2 amplification. Whether HER2-low BCs (HLBCs) constitute a distinct entity i...

    Authors: Enrico Berrino, Laura Annaratone, Sara Erika Bellomo, Giulio Ferrero, Amedeo Gagliardi, Alberto Bragoni, Dora Grassini, Simonetta Guarrera, Caterina Parlato, Laura Casorzo, Mara Panero, Ivana Sarotto, Silvia Giordano, Matteo Cereda, Filippo Montemurro, Riccardo Ponzone…
    Citation: Genome Medicine 2022 14:98
  37. Resistance to third-generation cephalosporins, often mediated by extended-spectrum beta-lactamases (ESBLs), is a considerable issue in hospital-associated infections as few drugs remain for treatment. ESBL gen...

    Authors: Jane Hawkey, Kelly L. Wyres, Louise M. Judd, Taylor Harshegyi, Luke Blakeway, Ryan R. Wick, Adam W. J. Jenney and Kathryn E. Holt
    Citation: Genome Medicine 2022 14:97
  38. Multidrug-resistant (MDR) Mycobacterium tuberculosis complex (MTBC) strains are a serious health problem in India, also contributing to one-fourth of the global MDR tuberculosis (TB) burden. About 36% of the MDR ...

    Authors: Viola Dreyer, Ayan Mandal, Prachi Dev, Matthias Merker, Ivan Barilar, Christian Utpatel, Kayzad Nilgiriwala, Camilla Rodrigues, Derrick W. Crook, Jean-Philippe Rasigade, Thierry Wirth, Nerges Mistry and Stefan Niemann
    Citation: Genome Medicine 2022 14:95
  39. Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights have been gained into virus biology and the host factors that modulate the human immune response against severe acute res...

    Authors: Caspar I. van der Made, Mihai G. Netea, Frank L. van der Veerdonk and Alexander Hoischen
    Citation: Genome Medicine 2022 14:96
  40. The cerebrospinal fluid (CSF) features a unique immune cell composition and is in constant contact with the brain borders, thus permitting insights into the brain to diagnose and monitor diseases. Recently, th...

    Authors: Michael Heming, Anna-Lena Börsch, Heinz Wiendl and Gerd Meyer zu Hörste
    Citation: Genome Medicine 2022 14:94
  41. Colorectal cancer (CRC) ranks as the second-leading cause of cancer-related death worldwide with metastases being the main cause of cancer-related death. Here, we investigated the genomic and transcriptomic al...

    Authors: Rui Wang, Jingyun Li, Xin Zhou, Yunuo Mao, Wendong Wang, Shuai Gao, Wei Wang, Yuan Gao, Kexuan Chen, Shuntai Yu, Xinglong Wu, Lu Wen, Hao Ge, Wei Fu and Fuchou Tang
    Citation: Genome Medicine 2022 14:93
  42. Genetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for each cancer type. Recently, expanded GT (eGT) using large hereditary c...

    Authors: Ozge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, Maksym Misyura, Umut Aypar, Sowmya Jairam, Ciyu Yang, Yirong Li, Nikita Mehta, Anna Maio, Angela Arnold, Erin Salo-Mullen, Margaret Sheehan, Aijazuddin Syed, Michael Walsh, Maria Carlo…
    Citation: Genome Medicine 2022 14:92
  43. Crohn’s disease (CD) patients demonstrate distinct intestinal microbial compositions and metabolic characteristics compared to unaffected controls. However, the impact of inflammation and underlying genetic ri...

    Authors: Jonathan P. Jacobs, Maryam Goudarzi, Venu Lagishetty, Dalin Li, Tytus Mak, Maomeng Tong, Paul Ruegger, Talin Haritunians, Carol Landers, Philip Fleshner, Eric Vasiliauskas, Andrew Ippoliti, Gil Melmed, David Shih, Stephan Targan, James Borneman…
    Citation: Genome Medicine 2022 14:91
  44. Lung cancer, one of the most common malignant tumors, exhibits high inter- and intra-tumor heterogeneity which contributes significantly to treatment resistance and failure. Single-cell RNA sequencing (scRNA-s...

    Authors: Qingqing Li, Rui Wang, Zhenlin Yang, Wen Li, Jingwei Yang, Zhijie Wang, Hua Bai, Yueli Cui, Yanhua Tian, Zixin Wu, Yuqing Guo, Jiachen Xu, Lu Wen, Jie He, Fuchou Tang and Jie Wang
    Citation: Genome Medicine 2022 14:87
  45. Genomic surveillance of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the only approach to rapidly monitor and tackle emerging variants of concern (VOC) of the COVID-19 pandemic. Such scrutin...

    Authors: Antonio Grimaldi, Francesco Panariello, Patrizia Annunziata, Teresa Giuliano, Michela Daniele, Biancamaria Pierri, Chiara Colantuono, Marcello Salvi, Valentina Bouché, Anna Manfredi, Maria Concetta Cuomo, Denise Di Concilio, Claudia Tiberio, Mariano Fiorenza, Giuseppe Portella, Ilaria Cimmino…
    Citation: Genome Medicine 2022 14:90
  46. The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Neverthele...

    Authors: Eleonora Porcu, Annique Claringbould, Antoine Weihs, Kaido Lepik, Tom G. Richardson, Uwe Völker, Federico A. Santoni, Alexander Teumer, Lude Franke, Alexandre Reymond and Zoltán Kutalik
    Citation: Genome Medicine 2022 14:89
  47. Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently develo...

    Authors: Egor Dolzhenko, Ben Weisburd, Kristina Ibañez, Indhu-Shree Rajan-Babu, Christine Anyansi, Mark F. Bennett, Kimberley Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu…
    Citation: Genome Medicine 2022 14:84
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