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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01173-8
By:
- Matuozzo, Daniela;
- Talouarn, Estelle;
- Marchal, Astrid;
- Zhang, Peng;
- Manry, Jeremy;
- Seeleuthner, Yoann;
- Zhang, Yu;
- Bolze, Alexandre;
- Chaldebas, Matthieu;
- Milisavljevic, Baptiste;
- Gervais, Adrian;
- Bastard, Paul;
- Asano, Takaki;
- Bizien, Lucy;
- Barzaghi, Federica;
- Abolhassani, Hassan;
- Abou Tayoun, Ahmad;
- Aiuti, Alessandro;
- Alavi Darazam, Ilad;
- Allende, Luis M.
Publication type:
Article
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01170-x
By:
- Mayoh, Chelsea;
- Gifford, Andrew J.;
- Terry, Rachael;
- Lau, Loretta M. S.;
- Wong, Marie;
- Rao, Padmashree;
- Shai-Hee, Tyler;
- Saletta, Federica;
- Khuong-Quang, Dong-Anh;
- Qin, Vicky;
- Mateos, Marion K.;
- Meyran, Deborah;
- Miller, Katherine E.;
- Yuksel, Aysen;
- Mould, Emily V. A.;
- Bowen-James, Rachel;
- Govender, Dinisha;
- Senapati, Akanksha;
- Zhukova, Nataliya;
- Omer, Natacha
Publication type:
Article
X chromosome dosage and the genetic impact across human tissues.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01169-4
By:
- Viuff, Mette;
- Skakkebæk, Anne;
- Johannsen, Emma B.;
- Chang, Simon;
- Pedersen, Steen Bønlykke;
- Lauritsen, Katrine Meyer;
- Pedersen, Mette Glavind Bülow;
- Trolle, Christian;
- Just, Jesper;
- Gravholt, Claus H.
Publication type:
Article
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01166-7
By:
- Peterson, Bennet;
- Hernandez, Edgar Javier;
- Hobbs, Charlotte;
- Malone Jenkins, Sabrina;
- Moore, Barry;
- Rosales, Edwin;
- Zoucha, Samuel;
- Sanford, Erica;
- Bainbridge, Matthew N.;
- Frise, Erwin;
- Oriol, Albert;
- Brunelli, Luca;
- Kingsmore, Stephen F.;
- Yandell, Mark
Publication type:
Article
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01167-6
By:
- Stoltze, Ulrik Kristoffer;
- Hagen, Christian Munch;
- van Overeem Hansen, Thomas;
- Byrjalsen, Anna;
- Gerdes, Anne-Marie;
- Yakimov, Victor;
- Rasmussen, Simon;
- Bækvad-Hansen, Marie;
- Hougaard, David Michael;
- Schmiegelow, Kjeld;
- Hjalgrim, Henrik;
- Wadt, Karin;
- Bybjerg-Grauholm, Jonas
Publication type:
Article
The genomic landscape of rare disorders in the Middle East.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01157-8
By:
- El Naofal, Maha;
- Ramaswamy, Sathishkumar;
- Alsarhan, Ali;
- Nugud, Ahmed;
- Sarfraz, Fatima;
- Janbaz, Hiba;
- Taylor, Alan;
- Jain, Ruchi;
- Halabi, Nour;
- Yaslam, Sawsan;
- Alfalasi, Roudha;
- Shenbagam, Shruti;
- Rabea, Fatma;
- Bitzan, Martin;
- Yavuz, Lemis;
- Wafadari, Deena;
- Abulhoul, Hamda;
- Shankar, Shiva;
- Al Maazmi, Munira;
- Rizk, Ruba
Publication type:
Article
The neuroimmune axis of Alzheimer's disease.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01155-w
By:
- Jorfi, Mehdi;
- Maaser-Hecker, Anna;
- Tanzi, Rudolph E.
Publication type:
Article
spSeudoMap: cell type mapping of spatial transcriptomics using unmatched single-cell RNA-seq data.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01168-5
By:
- Bae, Sungwoo;
- Choi, Hongyoon;
- Lee, Dong Soo
Publication type:
Article
Pharmacogenomic profiling reveals molecular features of chemotherapy resistance in IDH wild-type primary glioblastoma.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01165-8
By:
- Nam, Yoonhee;
- Koo, Harim;
- Yang, Yingxi;
- Shin, Sang;
- Zhu, Zhihan;
- Kim, Donggeon;
- Cho, Hee Jin;
- Mu, Quanhua;
- Choi, Seung Won;
- Sa, Jason K.;
- Seo, Yun Jee;
- Kim, Yejin;
- Lee, Kyoungmin;
- Oh, Jeong-Woo;
- Kwon, Yong-Jun;
- Park, Woong-Yang;
- Kong, Doo-Sik;
- Seol, Ho Jun;
- Lee, Jung-Il;
- Park, Chul-Kee
Publication type:
Article
Identification of specific susceptibility loci for the early-onset colorectal cancer.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01163-w
By:
- Wang, Haoxue;
- Cai, Yimin;
- Jin, Meng;
- Huang, Chao Qun;
- Ning, Caibo;
- Niu, Siyuan;
- Fan, Linyun;
- Li, Bin;
- Zhang, Ming;
- Lu, Zequn;
- Dong, Xuesi;
- Luo, Zilin;
- Zhong, Rong;
- Li, Heng;
- Zhu, Ying;
- Miao, Xiaoping;
- Yang, Xiaojun;
- Chang, Jiang;
- Li, Ni;
- Tian, Jianbo
Publication type:
Article
Influence network model uncovers relations between biological processes and mutational signatures.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01162-x
By:
- Amgalan, Bayarbaatar;
- Wojtowicz, Damian;
- Kim, Yoo-Ah;
- Przytycka, Teresa M.
Publication type:
Article
Tumor microenvironment remodeling after neoadjuvant immunotherapy in non-small cell lung cancer revealed by single-cell RNA sequencing.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01164-9
By:
- Hu, Junjie;
- Zhang, Lele;
- Xia, Haoran;
- Yan, Yilv;
- Zhu, Xinsheng;
- Sun, Fenghuan;
- Sun, Liangdong;
- Li, Shuangyi;
- Li, Dianke;
- Wang, Jin;
- Han, Ya;
- Zhang, Jing;
- Bian, Dongliang;
- Yu, Huansha;
- Chen, Yan;
- Fan, Pengyu;
- Ma, Qiang;
- Jiang, Gening;
- Wang, Chenfei;
- Zhang, Peng
Publication type:
Article
TREM2 splice isoforms generate soluble TREM2 species that disrupt long-term potentiation.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01160-z
By:
- Moutinho, Miguel;
- Coronel, Israel;
- Tsai, Andy P.;
- Di Prisco, Gonzalo Viana;
- Pennington, Taylor;
- Atwood, Brady K.;
- Puntambekar, Shweta S.;
- Smith, Daniel C.;
- Martinez, Pablo;
- Han, Seonggyun;
- Lee, Younghee;
- Lasagna-Reeves, Cristian A.;
- Lamb, Bruce T.;
- Bissel, Stephanie J.;
- Nho, Kwangsik;
- Landreth, Gary E.
Publication type:
Article
Refining epigenetic prediction of chronological and biological age.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01161-y
By:
- Bernabeu, Elena;
- McCartney, Daniel L.;
- Gadd, Danni A.;
- Hillary, Robert F.;
- Lu, Ake T.;
- Murphy, Lee;
- Wrobel, Nicola;
- Campbell, Archie;
- Harris, Sarah E.;
- Liewald, David;
- Hayward, Caroline;
- Sudlow, Cathie;
- Cox, Simon R.;
- Evans, Kathryn L.;
- Horvath, Steve;
- McIntosh, Andrew M.;
- Robinson, Matthew R.;
- Vallejos, Catalina A.;
- Marioni, Riccardo E.
Publication type:
Article
Pervasiveness of HLA allele-specific expression loss across tumor types.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01154-x
By:
- Filip, Ioan;
- Wang, Anqi;
- Kravets, Oleksandr;
- Orenbuch, Rose;
- Zhao, Junfei;
- Perea-Chamblee, Tomin E.;
- Manji, Gulam A.;
- López de Maturana, Evangelina;
- Malats, Núria;
- Olive, Kenneth P.;
- Rabadan, Raul
Publication type:
Article
Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01158-7
By:
- Li, Shumin;
- Yan, Bin;
- Li, Thomas K. T.;
- Lu, Jianliang;
- Gu, Yifan;
- Tan, Yueqiu;
- Gong, Fei;
- Lam, Tak-Wah;
- Xie, Pingyuan;
- Wang, Yuexuan;
- Lin, Ge;
- Luo, Ruibang
Publication type:
Article
Genomic analysis of the international high-risk clonal lineage Klebsiella pneumoniae sequence type 395.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01159-6
By:
- Shaidullina, Elvira R.;
- Schwabe, Michael;
- Rohde, Thomas;
- Shapovalova, Valeria V.;
- Dyachkova, Marina S.;
- Matsvay, Alina D.;
- Savochkina, Yuliya A.;
- Shelenkov, Andrey A.;
- Mikhaylova, Yulia V.;
- Sydow, Katharina;
- Lebreton, François;
- Idelevich, Evgeny A.;
- Heiden, Stefan E.;
- Becker, Karsten;
- Kozlov, Roman S.;
- Shipulin, German A.;
- Akimkin, Vasiliy G.;
- Lalk, Michael;
- Guenther, Sebastian;
- Zautner, Andreas E.
Publication type:
Article
Pervasiveness of HLA allele-specific expression loss across tumor types.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01154-x
By:
- Filip, Ioan;
- Wang, Anqi;
- Kravets, Oleksandr;
- Orenbuch, Rose;
- Zhao, Junfei;
- Perea-Chamblee, Tomin E.;
- Manji, Gulam A.;
- López de Maturana, Evangelina;
- Malats, Núria;
- Olive, Kenneth P.;
- Rabadan, Raul
Publication type:
Article
Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01156-9
By:
- Xin, Junyi;
- Du, Mulong;
- Gu, Dongying;
- Jiang, Kewei;
- Wang, Mengyun;
- Jin, Mingjuan;
- Hu, Yeting;
- Ben, Shuai;
- Chen, Silu;
- Shao, Wei;
- Li, Shuwei;
- Chu, Haiyan;
- Zhu, Linjun;
- Li, Chen;
- Chen, Kun;
- Ding, Kefeng;
- Zhang, Zhengdong;
- Shen, Hongbing;
- Wang, Meilin
Publication type:
Article
Large-scale genomic analysis of global Klebsiella pneumoniae plasmids reveals multiple simultaneous clusters of carbapenem-resistant hypervirulent strains.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01153-y
By:
- Spadar, Anton;
- Perdigão, João;
- Campino, Susana;
- Clark, Taane G.
Publication type:
Article
Single-cell transcriptomics reveals a mechanosensitive injury signaling pathway in early diabetic nephropathy.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-022-01145-4
By:
- Liu, Shuya;
- Zhao, Yu;
- Lu, Shun;
- Zhang, Tianran;
- Lindenmeyer, Maja T.;
- Nair, Viji;
- Gies, Sydney E.;
- Wu, Guochao;
- Nelson, Robert G.;
- Czogalla, Jan;
- Aypek, Hande;
- Zielinski, Stephanie;
- Liao, Zhouning;
- Schaper, Melanie;
- Fermin, Damian;
- Cohen, Clemens D.;
- Delic, Denis;
- Krebs, Christian F.;
- Grahammer, Florian;
- Wiech, Thorsten
Publication type:
Article
The gut microbiota in multiple sclerosis varies with disease activity.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-022-01148-1
By:
- Thirion, Florence;
- Sellebjerg, Finn;
- Fan, Yong;
- Lyu, Liwei;
- Hansen, Tue H.;
- Pons, Nicolas;
- Levenez, Florence;
- Quinquis, Benoit;
- Stankevic, Evelina;
- Søndergaard, Helle B.;
- Dantoft, Thomas M.;
- Poulsen, Casper S.;
- Forslund, Sofia K.;
- Vestergaard, Henrik;
- Hansen, Torben;
- Brix, Susanne;
- Oturai, Annette;
- Sørensen, Per Soelberg;
- Ehrlich, Stanislav D.;
- Pedersen, Oluf
Publication type:
Article
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-022-01152-5
By:
- Mueller, Stefanie H.;
- Lai, Alvina G.;
- Valkovskaya, Maria;
- Michailidou, Kyriaki;
- Bolla, Manjeet K.;
- Wang, Qin;
- Dennis, Joe;
- Lush, Michael;
- Abu-Ful, Zomoruda;
- Ahearn, Thomas U.;
- Andrulis, Irene L.;
- Anton-Culver, Hoda;
- Antonenkova, Natalia N.;
- Arndt, Volker;
- Aronson, Kristan J.;
- Augustinsson, Annelie;
- Baert, Thais;
- Freeman, Laura E. Beane;
- Beckmann, Matthias W.;
- Behrens, Sabine
Publication type:
Article
Publisher Correction: Analysis of transcriptomic features reveals molecular endotypes of SLE with clinical implications.
Published in:
2023
By:
- Hubbard, Erika L.;
- Bachali, Prathyusha;
- Kingsmore, Kathryn M.;
- He, Yisha;
- Catalina, Michelle D.;
- Grammer, Amrie C.;
- Lipsky, Peter E.
Publication type:
Correction Notice
Personalized tumor combination therapy optimization using the single-cell transcriptome.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01256-6
By:
- Tang, Chen;
- Fu, Shaliu;
- Jin, Xuan;
- Li, Wannian;
- Xing, Feiyang;
- Duan, Bin;
- Cheng, Xiaojie;
- Chen, Xiaohan;
- Wang, Shuguang;
- Zhu, Chenyu;
- Li, Gaoyang;
- Chuai, Guohui;
- He, Yayi;
- Wang, Ping;
- Liu, Qi
Publication type:
Article
Comprehensive assessment of the genetic characteristics of small for gestational age newborns in NICU: from diagnosis of genetic disorders to prediction of prognosis.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01268-2
By:
- Xiao, Hui;
- Chen, Huiyao;
- Chen, Xiang;
- Lu, Yulan;
- Wu, Bingbing;
- Wang, Huijun;
- Cao, Yun;
- Hu, Liyuan;
- Dong, Xinran;
- Zhou, Wenhao;
- Yang, Lin
Publication type:
Article
Pre-operative clonal hematopoiesis is related to adverse outcome in lung cancer after adjuvant therapy.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01266-4
By:
- Yun, Jae Kwang;
- Kim, Sugyeong;
- An, Hongyul;
- Lee, Geun Dong;
- Kim, Hyeong Ryul;
- Kim, Yong-Hee;
- Kim, Dong Kwan;
- Park, Seung-Il;
- Choi, Sehoon;
- Koh, Youngil
Publication type:
Article
Mobilizable plasmids drive the spread of antimicrobial resistance genes and virulence genes in Klebsiella pneumoniae.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01260-w
By:
- Zhang, Jianfeng;
- Xu, Yanping;
- Wang, Meng;
- Li, Xiaobin;
- Liu, Zhiyuan;
- Kuang, Dai;
- Deng, Zixin;
- Ou, Hong-Yu;
- Qu, Jieming
Publication type:
Article
Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01252-w
By:
- Song, Seulki;
- Koh, Youngil;
- Kim, Seokhyeon;
- Lee, Sang Mi;
- Kim, Hyun Uk;
- Ko, Jung Min;
- Lee, Se-Hoon;
- Yoon, Sung-Soo;
- Park, Solip
Publication type:
Article
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01271-7
By:
- Liu, Sihan;
- Zhong, Mingjun;
- Huang, Yu;
- Zhang, Qian;
- Chen, Ting;
- Xu, Xiaofei;
- Peng, Wan;
- Wang, Xiaolu;
- Feng, Xiaoshu;
- Kang, Lu;
- Lu, Yu;
- Cheng, Jing;
- Bu, Fengxiao;
- Yuan, Huijun
Publication type:
Article
De novo identification of expressed cancer somatic mutations from single-cell RNA sequencing data.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01269-1
By:
- Zhang, Tianyun;
- Jia, Hanying;
- Song, Tairan;
- Lv, Lin;
- Gulhan, Doga C.;
- Wang, Haishuai;
- Guo, Wei;
- Xi, Ruibin;
- Guo, Hongshan;
- Shen, Ning
Publication type:
Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
By:
- AlAbdi, Lama;
- Shamseldin, Hanan E.;
- Khouj, Ebtissal;
- Helaby, Rana;
- Aljamal, Bayan;
- Alqahtani, Mashael;
- Almulhim, Aisha;
- Hamid, Halima;
- Hashem, Mais O.;
- Abdulwahab, Firdous;
- Abouyousef, Omar;
- Jaafar, Amal;
- Alshidi, Tarfa;
- Al-Owain, Mohammed;
- Alhashem, Amal;
- Al Tala, Saeed;
- Khan, Arif O.;
- Mardawi, Elham;
- Alkuraya, Hisham;
- Faqeih, Eissa
Publication type:
Article
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
By:
- Lin, Sheng-Jia;
- Vona, Barbara;
- Lau, Tracy;
- Huang, Kevin;
- Zaki, Maha S.;
- Aldeen, Huda Shujaa;
- Karimiani, Ehsan Ghayoor;
- Rocca, Clarissa;
- Noureldeen, Mahmoud M.;
- Saad, Ahmed K.;
- Petree, Cassidy;
- Bartolomaeus, Tobias;
- Abou Jamra, Rami;
- Zifarelli, Giovanni;
- Gotkhindikar, Aditi;
- Wentzensen, Ingrid M.;
- Liao, Mingjuan;
- Cork, Emalyn Elise;
- Varshney, Pratishtha;
- Hashemi, Narges
Publication type:
Article
Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01264-6
By:
- Gunning, Adam Colin;
- Wright, Caroline Fiona
Publication type:
Article
Mendelian randomization analyses suggest a causal role for circulating GIP and IL-1RA levels in homeostatic model assessment-derived measures of β-cell function and insulin sensitivity in Africans without type 2 diabetes.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01263-7
By:
- Meeks, Karlijn A. C.;
- Bentley, Amy R.;
- Assimes, Themistocles L.;
- Franceschini, Nora;
- Adeyemo, Adebowale A.;
- Rotimi, Charles N.;
- Doumatey, Ayo P.
Publication type:
Article
Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01261-9
By:
- Stein, David;
- Kars, Meltem Ece;
- Wu, Yiming;
- Bayrak, Çiğdem Sevim;
- Stenson, Peter D.;
- Cooper, David N.;
- Schlessinger, Avner;
- Itan, Yuval
Publication type:
Article
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01257-5
By:
- Li, Huiya;
- Liu, Pinyi;
- Zhang, Bing;
- Yuan, Zengqiang;
- Guo, Mengdi;
- Zou, Xinxin;
- Qian, Yi;
- Deng, Shiji;
- Zhu, Liwen;
- Cao, Xiang;
- Tao, Tao;
- Xia, Shengnan;
- Bao, Xinyu;
- Xu, Yun
Publication type:
Article
Acute ischemia induces spatially and transcriptionally distinct microglial subclusters.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01257-5
By:
- Li, Huiya;
- Liu, Pinyi;
- Zhang, Bing;
- Yuan, Zengqiang;
- Guo, Mengdi;
- Zou, Xinxin;
- Qian, Yi;
- Deng, Shiji;
- Zhu, Liwen;
- Cao, Xiang;
- Tao, Tao;
- Xia, Shengnan;
- Bao, Xinyu;
- Xu, Yun
Publication type:
Article
Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01262-8
By:
- Nikolaienko, Oleksii;
- Eikesdal, Hans P.;
- Ognedal, Elisabet;
- Gilje, Bjørnar;
- Lundgren, Steinar;
- Blix, Egil S.;
- Espelid, Helge;
- Geisler, Jürgen;
- Geisler, Stephanie;
- Janssen, Emiel A. M.;
- Yndestad, Synnøve;
- Minsaas, Laura;
- Leirvaag, Beryl;
- Lillestøl, Reidun;
- Knappskog, Stian;
- Lønning, Per E.
Publication type:
Article
A phenome-wide scan reveals convergence of common and rare variant associations.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01253-9
By:
- Zhou, Dan;
- Zhou, Yuan;
- Xu, Yue;
- Meng, Ran;
- Gamazon, Eric R.
Publication type:
Article
Massive underrepresentation of Arabs in genomic studies of common disease.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01254-8
By:
- Bhattacharya, Romit;
- Chen, NingNing;
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GITR and TIGIT immunotherapy provokes divergent multicellular responses in the tumor microenvironment of gastrointestinal cancers.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01259-3
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Loss of p53-DREAM-mediated repression of cell cycle genes as a driver of lymph node metastasis in head and neck cancer.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01236-w
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The role of admixture in the rare variant contribution to inflammatory bowel disease.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01244-w
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Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01228-w
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Annotation of cell types (ACT): a convenient web server for cell type annotation.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01249-5
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Skeletal muscle regeneration failure in ischemic-damaged limbs is associated with pro-inflammatory macrophages and premature differentiation of satellite cells.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01250-y
By:
- Southerland, Kevin W.;
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Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01238-8
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Building blocks for better biorepositories in Africa.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01235-x
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
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Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01240-0
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Article

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