Works matching IS 14739542 AND DT 2021 AND VI 15 AND IP 1

Results: 75

Correction to: Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Published in:

2021

By:

Bruse, Shannon;
Moreau, Michael;
Bromberg, Yana;
Jang, Jun-Ho;
Wang, Nan;
Ha, Hongseok;
Picchi, Maria;
Lin, Yong;
Langley, Raymond J.;
Qualls, Clifford;
Klesney-Tait, Julia;
Zabner, Joseph;
Leng, Shuguang;
Mao, Jenny;
Belinsky, Steven A.;
Xing, Jinchuan;
Nyunoya, Toru

Publication type:

Correction Notice

Identification of a novel signature based on unfolded protein response-related gene for predicting prognosis in bladder cancer.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00372-x

By:

Zhu, Ke;
Xiaoqiang, Liu;
Deng, Wen;
Wang, Gongxian;
Fu, Bin

Publication type:

Article

RNA-seq driven expression and enrichment analysis to investigate CVD genes with associated phenotypes among high-risk heart failure patients.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00367-8

By:

Ahmed, Zeeshan;
Zeeshan, Saman;
Liang, Bruce T.

Publication type:

Article

Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00371-y

By:

Avramović, Vladimir;
Frederiksen, Simona Denise;
Brkić, Marjana;
Tarailo-Graovac, Maja

Publication type:

Article

Estimating prevalence of human traits among populations from polygenic risk scores.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00370-z

By:

Graham, Britney E.;
Plotkin, Brian;
Muglia, Louis;
Moore, Jason H.;
Williams, Scott M.

Publication type:

Article

A regulatory miRNA–mRNA network is associated with transplantation response in acute kidney injury.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00363-y

By:

Guo, Duan;
Fan, Yu;
Yue, Ji-Rong;
Lin, Tao

Publication type:

Article

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00368-7

By:

Nassir, Nasna;
Bankapur, Asma;
Samara, Bisan;
Ali, Abdulrahman;
Ahmed, Awab;
Inuwa, Ibrahim M.;
Zarrei, Mehdi;
Safizadeh Shabestari, Seyed Ali;
AlBanna, Ammar;
Howe, Jennifer L.;
Berdiev, Bakhrom K.;
Scherer, Stephen W.;
Woodbury-Smith, Marc;
Uddin, Mohammed

Publication type:

Article

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00369-6

By:

Domogala, Daniel D.;
Gambin, Tomasz;
Zemet, Roni;
Wu, Chung Wah;
Schulze, Katharina V.;
Yang, Yaping;
Wilson, Theresa A.;
Machol, Ido;
Liu, Pengfei;
Stankiewicz, Paweł

Publication type:

Article

A robust and stable gene selection algorithm based on graph theory and machine learning.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00366-9

By:

Saha, Subrata;
Soliman, Ahmed;
Rajasekaran, Sanguthevar

Publication type:

Article

Breast cancer in West Africa: molecular analysis of BRCA genes in early-onset breast cancer patients in Burkina Faso.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00365-w

By:

Biancolella, Michela;
Ouédraogo, Nabonswindé Lamoussa Marie;
Zongo, Nayi;
Zohoncon, Théodora Mahoukèdè;
Testa, Barbara;
Rizzacasa, Barbara;
Latini, Andrea;
Conte, Chiara;
Compaore, Tégwindé Rebeca;
Ouedraogo, Charlemagne Marie Rayang-Newendé;
Traore, Si Simon;
Simpore, Jacques;
Novelli, Giuseppe

Publication type:

Article

Genetic polymorphisms of Vascular Endothelial Growth Factor (VEGF) associated with endometriosis in Nigerian women.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00364-x

By:

Babah, Ochuwa Adiketu;
Ojewunmi, Oyesola Oyewole;
Osuntoki, Akinniyi Adediran;
Simon, Melissa A.;
Afolabi, Bosede Bukola

Publication type:

Article

Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00362-z

By:

Chouk, Hamza;
Ben Rejeb, Mohamed;
Boussofara, Lobna;
Elmabrouk, Haїfa;
Ghariani, Najet;
Sriha, Badreddine;
Saad, Ali;
H'Mida, Dorra;
Denguezli, Mohamed

Publication type:

Article

Development of the pharmacogenomics and genomics literacy framework for pharmacists.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00361-0

By:

Rahma, Azhar T.;
Elbarazi, Iffat;
Ali, Bassam R.;
Patrinos, George P.;
Ahmed, Luai A.;
Elsheik, Mahanna;
Al-Maskari, Fatma

Publication type:

Article

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00358-9

By:

Malik, Shaza;
Zaied, Roan;
Syed, Najeeb;
Jithesh, Puthen;
Al-Shafai, Mashael

Publication type:

Article

Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00359-8

By:

Pappas, Chris M.;
Zouache, Moussa A.;
Matthews, Stacie;
Faust, Caitlin D.;
Hageman, Jill L.;
Williams, Brandi L.;
Richards, Burt T.;
Hageman, Gregory S.

Publication type:

Article

Correction to: Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Published in:

2021

By:

Colona, Vito Luigi;
Vasiliou, Vasilis;
Watt, Jessica;
Novelli, Giuseppe;
Reichardt, Juergen K. V.

Publication type:

Correction Notice

Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Published in:

2021

By:

Colona, Vito Luigi;
Vasiliou, Vasilis;
Watt, Jessica;
Novelli, Giuseppe;
Reichardt, Juergen K. V.

Publication type:

Editorial

Evaluation of low-pass genome sequencing in polygenic risk score calculation for Parkinson's disease.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00357-w

By:

Kim, Sungjae;
Shin, Jong-Yeon;
Kwon, Nak-Jung;
Kim, Chang-Uk;
Kim, Changhoon;
Lee, Chong Sik;
Seo, Jeong-Sun

Publication type:

Article

Update on human genetic susceptibility to COVID-19: susceptibility to virus and response.

Published in:

2021

By:

Colona, Vito Luigi;
Vasilou, Vasilis;
Watt, Jessica;
Novelli, Giuseppe;
Reichardt, Juergen K. V.

Publication type:

Editorial

Correction to: The evolutionary genetics of lactase persistence in seven ethnic groups across the Iranian plateau.

Published in:

2021

By:

Charati, Hadi;
Peng, Min-Sheng;
Chen, Wei;
Yang, Xing-Yan;
Ori, Roghayeh Jabbari;
Aghajanpour-Mir, Mohsen;
Esmailizadeh, Ali;
Zhang, Ya-Ping

Publication type:

Correction Notice

Abnormal expression profile of plasma-derived exosomal microRNAs in patients with treatment-resistant depression.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00354-z

By:

Li, Lian-Di;
Naveed, Muhammad;
Du, Zi-Wei;
Ding, Huachen;
Gu, Kai;
Wei, Lu-Lu;
Zhou, Ya-Ping;
Meng, Fan;
Wang, Chun;
Han, Feng;
Zhou, Qi-Gang;
Zhang, Jing

Publication type:

Article

Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00353-0

By:

Cheung, Nicholas Yan Chai;
Fung, Jasmine Lee Fong;
Ng, Yvette Nga Chung;
Wong, Wilfred Hing Sang;
Chung, Claudia Ching Yan;
Mak, Christopher Chun Yu;
Chung, Brian Hon Yin

Publication type:

Article

Identification of subgroups along the glycolysis-cholesterol synthesis axis and the development of an associated prognostic risk model.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00350-3

By:

Zhang, Enchong;
Chen, Yijing;
Bao, Shurui;
Hou, Xueying;
Hu, Jing;
Mu, Oscar Yong Nan;
Song, Yongsheng;
Shan, Liping

Publication type:

Article

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00351-2

By:

Abouelhoda, Mohamed;
Mohty, Dania;
Alayary, Islam;
Meyer, Brian F.;
Arold, Stefan T.;
Fadel, Bahaa M.;
Monies, Dorota

Publication type:

Article

A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00352-1

By:

Pandi, Maria-Theodora;
Koromina, Maria;
Tsafaridis, Iordanis;
Patsilinakos, Sotirios;
Christoforou, Evangelos;
van der Spek, Peter J.;
Patrinos, George P.

Publication type:

Article

LncRNA-TUG1 promotes the progression of infantile hemangioma by regulating miR-137/IGFBP5 axis.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00349-w

By:

Zhou, Lili;
Jia, Xiao;
Yang, Xiangzheng

Publication type:

Article

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00348-x

By:

Sáenz, Samantha S.;
Arias, Benjamin;
Hosomichi, Kazuyoshi;
Romero, Vanessa I.

Publication type:

Article

A comprehensive analysis of copy number variation in a Turkish dementia cohort.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00346-z

By:

Dehghani, Nadia;
Guven, Gamze;
Kun-Rodrigues, Celia;
Gouveia, Catarina;
Foster, Kalina;
Hanagasi, Hasmet;
Lohmann, Ebba;
Samanci, Bedia;
Gurvit, Hakan;
Bilgic, Basar;
Bras, Jose;
Guerreiro, Rita

Publication type:

Article

Altered splicing associated with the pathology of inflammatory bowel disease.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00347-y

By:

Berger, Kiera;
Somineni, Hari;
Prince, Jarod;
Kugathasan, Subra;
Gibson, Greg

Publication type:

Article

Implementation and implications for polygenic risk scores in healthcare.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00339-y

By:

Slunecka, John L.;
van der Zee, Matthijs D.;
Beck, Jeffrey J.;
Johnson, Brandon N.;
Finnicum, Casey T.;
Pool, René;
Hottenga, Jouke-Jan;
de Geus, Eco J. C.;
Ehli, Erik A.

Publication type:

Article

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00345-0

By:

Dehnavi, Ali Zare;
Heidari, Erfan;
Rasulinezhad, Maryam;
Heidari, Morteza;
Ashrafi, Mahmoud Reza;
Hosseini, Mohammad Mahdi;
Sadeghzadeh, Fatemeh;
Fallah, Mohammad-Sadegh;
Rostampour, Noushin;
Bahraini, Amir;
Garshasbi, Masoud;
Tavasoli, Ali Reza

Publication type:

Article

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00342-3

By:

Padhi, Evin M.;
Hayeck, Tristan J.;
Cheng, Zhang;
Chatterjee, Sumantra;
Mannion, Brandon J.;
Byrska-Bishop, Marta;
Willems, Marjolaine;
Pinson, Lucile;
Redon, Sylvia;
Benech, Caroline;
Uguen, Kevin;
Audebert-Bellanger, Séverine;
Le Marechal, Cédric;
Férec, Claude;
Efthymiou, Stephanie;
Rahman, Fatima;
Maqbool, Shazia;
Maroofian, Reza;
Houlden, Henry;
Musunuri, Rajeeva

Publication type:

Article

High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00344-1

By:

Zhao, Yang;
Guo, Hao;
Wang, Wenda;
Zheng, Guoyang;
Wang, Zhan;
Wang, Xu;
Zhang, Yushi

Publication type:

Article

TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00343-2

By:

Mohajeri, Mahsa Sadat Asl;
Eslahi, Atieh;
Khazaii, Zeinab;
Moradi, Mohammad Reza;
Pazhoomand, Reza;
Farrokhi, Shima;
Feizabadi, Masoumeh Heidari;
Alizadeh, Farzaneh;
Mojarrad, Majid

Publication type:

Article

Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00332-5

By:

Yang, Jiexia;
Wu, Jing;
Peng, Haishan;
Hou, Yaping;
Guo, Fangfang;
Wang, Dongmei;
Ouyang, Haoxin;
Wang, Yixia;
Yin, Aihua

Publication type:

Article

Single-cell chromatin accessibility landscape of human umbilical cord blood in trisomy 18 syndrome.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00338-z

By:

Qiu, Xiaofen;
Yu, Haiyan;
Wu, Hongwei;
Hu, Zhiyang;
Zhou, Jun;
Lin, Hua;
Xue, Wen;
Cai, Wanxia;
Chen, Jiejing;
Yan, Qiang;
Dai, Weier;
Yang, Ming;
Tang, Donge;
Dai, Yong

Publication type:

Article

Advancing clinical genomics and precision medicine with GVViZ: FAIR bioinformatics platform for variable gene-disease annotation, visualization, and expression analysis.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00336-1

By:

Ahmed, Zeeshan;
Renart, Eduard Gibert;
Zeeshan, Saman;
Dong, XinQi

Publication type:

Article

Regulatory VCAN polymorphism is associated with shoulder pain and disability in breast cancer survivors.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00337-0

By:

Mafu, Trevor S.;
September, Alison V.;
Shamley, Delva

Publication type:

Article

Correction to: Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

Published in:: Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00322-7
Publication type:: Article

Correction to: Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

Published in:

2021

By:

Mersha, Tesfaye B.;
Abebe, Tilahun

Publication type:

Correction Notice

Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00335-2

By:

Ganel, Liron;
Chen, Lei;
Christ, Ryan;
Vangipurapu, Jagadish;
Young, Erica;
Das, Indraniel;
Kanchi, Krishna;
Larson, David;
Regier, Allison;
Abel, Haley;
Kang, Chul Joo;
Scott, Alexandra;
Havulinna, Aki;
Chiang, Charleston W. K.;
Service, Susan;
Freimer, Nelson;
Palotie, Aarno;
Ripatti, Samuli;
Kuusisto, Johanna;
Boehnke, Michael

Publication type:

Article

Predicting anticancer hyperfoods with graph convolutional networks.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00333-4

By:

Gonzalez, Guadalupe;
Gong, Shunwang;
Laponogov, Ivan;
Bronstein, Michael;
Veselkov, Kirill

Publication type:

Article

Genome-based therapeutic interventions for β-type hemoglobinopathies.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00329-0

By:

Karamperis, Kariofyllis;
Tsoumpeli, Maria T.;
Kounelis, Fotios;
Koromina, Maria;
Mitropoulou, Christina;
Moutinho, Catia;
Patrinos, George P.

Publication type:

Article

The transcriptome profile of human trisomy 21 blood cells.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00325-4

By:

Antonaros, Francesca;
Zenatelli, Rossella;
Guerri, Giulia;
Bertelli, Matteo;
Locatelli, Chiara;
Vione, Beatrice;
Catapano, Francesca;
Gori, Alice;
Vitale, Lorenza;
Pelleri, Maria Chiara;
Ramacieri, Giuseppe;
Cocchi, Guido;
Strippoli, Pierluigi;
Caracausi, Maria;
Piovesan, Allison

Publication type:

Article

Cathelicidin antimicrobial peptide (CAMP) gene promoter methylation induces chondrocyte apoptosis.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00321-8

By:

Wang, Guoliang;
Li, Yanlin;
Yang, Guang;
Yang, Tengyun;
He, Lu;
Wang, Yang

Publication type:

Article

Correction to: An application of slow feature analysis to the genetic sequences of coronaviruses and influenza viruses.

Published in:

2021

By:

Tsonis, Anastasios A.;
Wang, Geli;
Zhang, Lvyi;
Lu, Wenxu;
Kayafas, Aristotle;
Del Rio-Tsonis, Katia

Publication type:

Correction Notice

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00328-1

By:

Raggio, Víctor;
Dell'Oca, Nicolas;
Simoes, Camila;
Tapié, Alejandra;
Medici, Conrado;
Costa, Gonzalo;
Rodriguez, Soledad;
Greif, Gonzalo;
Garrone, Estefania;
Rovella, María Laura;
Gonzalez, Virgina;
Halty, Margarita;
González, Gabriel;
Shin, Jong-Yeon;
Shin, Sang-Yoon;
Kim, Changhoon;
Seo, Jeong-Sun;
Graña, Martin;
Naya, Hugo;
Spangenberg, Lucia

Publication type:

Article

Identification of differentially expressed genes and signaling pathways in human conjunctiva and reproductive tract infected with Chlamydia trachomatis.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00313-8

By:

Zhu, Guo-Dong;
Cao, Xun-Jie;
Li, Ya-Ping;
Li, Jia-Xin;
Leng, Zi-Jian;
Xie, Li-Min;
Guo, Xu-Guang

Publication type:

Article

An application of slow feature analysis to the genetic sequences of coronaviruses and influenza viruses.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00327-2

By:

Tsonis, Anastasios A.;
Wang, Geli;
Zhang, Lvyi;
Lu, Wenxu;
Kayafas, Aristotle;
Del Rio-Tsonis, Katia

Publication type:

Article

Epigenetics and microRNAs in UGT1As.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00331-6

By:

Meng, Cui-Lan;
Zhao, Wei;
Zhong, Dan-Ni

Publication type:

Article