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Showing results for ISSN matching 1756-994X

Rule-based induction method for haplotype comparison and identification of candidate disease loci

JOURNAL ARTICLE published 2012 in Genome Medicine

Authors: Sirkku Karinen | Silva Saarinen | Rainer Lehtonen | Pasi Rastas | Pia Vahteristo | Lauri A Aaltonen | Sampsa Hautaniemi

https://doi.org/10.1186/gm320 Actions

Transcriptomic analysis of pluripotent stem cells: insights into health and disease

JOURNAL ARTICLE published 2011 in Genome Medicine

Authors: Jia-Chi Yeo | Huck-Hui Ng

https://doi.org/10.1186/gm284 Actions

Using DNA sequencers as stethoscopes

JOURNAL ARTICLE published 2011 in Genome Medicine

Authors: Melissa Gymrek | Yaniv Erlich

https://doi.org/10.1186/gm289 Actions

Back to the family: a renewed approach to rare variant studies

JOURNAL ARTICLE published 2012 in Genome Medicine

Authors: Dina Zielinski | Melissa Gymrek | Yaniv Erlich

https://doi.org/10.1186/gm398 Actions

Insights into gliomagenesis: systems biology unravels key pathways

JOURNAL ARTICLE published 2009 in Genome Medicine

Authors: Sandro J de Souza | Beatriz Stransky | Anamaria A Camargo

https://doi.org/10.1186/gm101 Actions

Identifying population differences in genes that affect body mass index

JOURNAL ARTICLE published 2013 in Genome Medicine

Authors: Scott M Williams

https://doi.org/10.1186/gm506 Actions

ENVE: a novel computational framework characterizes copy-number mutational landscapes in colorectal cancers from African American patients

JOURNAL ARTICLE published December 2015 in Genome Medicine

Research funded by National Cancer Institute (CA148980,CA150964,CA163060) | National Cancer Institute (CA163060) | Rosalie and Morton Cohen Family Memorial Genomics Fund of University Hospitals (ᅟ) | National Cancer Institute (CA163060) | National Cancer Institute (CA149349,CA163060) | National Cancer Institute (CA163060) | National Cancer Institute (CA043703) | National Cancer Institute (CA043703) | National Cancer Institute (CA043703) | National Cancer Institute (CA043703) | National Cancer Institute (CA043703)

Authors: Vinay Varadan | Salendra Singh | Arman Nosrati | Lakshmeswari Ravi | James Lutterbaugh | Jill S. Barnholtz-Sloan | Sanford D. Markowitz | Joseph E. Willis | Kishore Guda

https://doi.org/10.1186/s13073-015-0192-9 Actions

Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters

JOURNAL ARTICLE published December 2016 in Genome Medicine

Research funded by German Ministry for Education and Research (0315755)

Authors: Johannes Matthaei | Mladen V. Tzvetkov | Valerie Gal | Cordula Sachse-Seeboth | Daniel Sehrt | Jakob B. Hjelmborg | Ute Hofmann | Matthias Schwab | Reinhold Kerb | Jürgen Brockmöller

https://doi.org/10.1186/s13073-016-0372-2 Actions

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

JOURNAL ARTICLE published 14 December 2023 in Genome Medicine

Research funded by Global Collaborative Research, King Abdullah University of Science and Technology (REI/1/5189-01-01,REI/1/5189-01-01)

Authors: Lama AlAbdi | Hanan E. Shamseldin | Ebtissal Khouj | Rana Helaby | Bayan Aljamal | Mashael Alqahtani | Aisha Almulhim | Halima Hamid | Mais O. Hashem | Firdous Abdulwahab | Omar Abouyousef | Amal Jaafar | Tarfa Alshidi | Mohammed Al-Owain | Amal Alhashem | Saeed Al Tala | Arif O. Khan | Elham Mardawi | Hisham Alkuraya | Eissa Faqeih | Manal Afqi | Salwa Alkhalifi | Zuhair Rahbeeni | Samya T. Hagos | Wijdan Al-Ahmadi | Seba Nadeef | Sateesh Maddirevula | Khalid S. A. Khabar | Alexander Putra | Angel Angelov | Changsook Park | Ana M. Reyes-Ramos | Husen Umer | Ikram Ullah | Patrick Driguez | Yoshinori Fukasawa | Ming Sin Cheung | Imed Eddine Gallouzi | Fowzan S. Alkuraya

https://doi.org/10.1186/s13073-023-01270-8 Actions

Panx3 links body mass index and tumorigenesis in a genetically heterogeneous mouse model of carcinogen-induced cancer

JOURNAL ARTICLE published December 2016 in Genome Medicine

Research funded by National Cancer Institute (R01 R01CA184510) | National Cancer Institute (U01 CA84244) | National Cancer Institute (U01 CA141455) | National Cancer Institute (U01 CA176287) | National Institutes of Health (T32GM007175) | NCI (F31 CA180715)

Authors: Kyle D. Halliwill | David A. Quigley | Hio Chung Kang | Reyno Del Rosario | David Ginzinger | Allan Balmain

https://doi.org/10.1186/s13073-016-0334-8 Actions

Genes and pathways underlying regional and cell type changes in Alzheimer's disease

JOURNAL ARTICLE published 2013 in Genome Medicine

Authors: Jeremy A Miller | Randall L Woltjer | Jeff M Goodenbour | Steve Horvath | Daniel H Geschwind

https://doi.org/10.1186/gm452 Actions

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

JOURNAL ARTICLE published 28 February 2022 in Genome Medicine

Research funded by National Institutes of Health (U01HG010218,U41HG009649, R01DK116750, R01DK120565, P30DK116074)

Authors: Shruti Marwaha | Joshua W. Knowles | Euan A. Ashley

https://doi.org/10.1186/s13073-022-01026-w Actions

Correction to: Molecular and pharmacological modulators of the tumor immune contexture revealed by deconvolution of RNA-seq data

JOURNAL ARTICLE published December 2019 in Genome Medicine

Authors: Francesca Finotello | Clemens Mayer | Christina Plattner | Gerhard Laschober | Dietmar Rieder | Hubert Hackl | Anne Krogsdam | Zuzana Loncova | Wilfried Posch | Doris Wilflingseder | Sieghart Sopper | Marieke Ijsselsteijn | Thomas P. Brouwer | Douglas Johnson | Yaomin Xu | Yu Wang | Melinda E. Sanders | Monica V. Estrada | Paula Ericsson-Gonzalez | Pornpimol Charoentong | Justin Balko | Noel Filipe da Cunha Carvalho de Miranda | Zlatko Trajanoski

https://doi.org/10.1186/s13073-019-0655-5 Actions

Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping

JOURNAL ARTICLE published December 2021 in Genome Medicine

Research funded by Major Technical Innovation Project of Hubei Province (No. 2017ACA097) | the Special Foundation for High-level Talents of Guangdong (No. 2016TX03R171) | the Shenzhen Municipal Government of China (No. JCYJ20170412152854656)

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 | Fanwei Zeng | Yun Yang | Peixiang Ni | Yi Ding | Bixia Xiang | Zhiyu Peng | Can Liao

https://doi.org/10.1186/s13073-021-00836-8 Actions

Genomic exploration of sequential clinical isolates reveals a distinctive molecular signature of persistent Staphylococcus aureus bacteraemia

JOURNAL ARTICLE published December 2018 in Genome Medicine

Research funded by National Health and Medical Research Council (1105905,1008549)

Authors: Stefano G. Giulieri | Sarah L. Baines | Romain Guerillot | Torsten Seemann | Anders Gonçalves da Silva | Mark Schultz | Ruth C. Massey | Natasha E. Holmes | Timothy P. Stinear | Benjamin P. Howden

https://doi.org/10.1186/s13073-018-0574-x Actions

Potential contribution of the uterine microbiome in the development of endometrial cancer

JOURNAL ARTICLE published December 2016 in Genome Medicine

Authors: Marina R. S. Walther-António | Jun Chen | Francesco Multinu | Alexis Hokenstad | Tammy J. Distad | E. Heidi Cheek | Gary L. Keeney | Douglas J. Creedon | Heidi Nelson | Andrea Mariani | Nicholas Chia

https://doi.org/10.1186/s13073-016-0368-y Actions

Practical guidelines for B-cell receptor repertoire sequencing analysis

JOURNAL ARTICLE published December 2015 in Genome Medicine

Research funded by United States - Israel Binational Science Foundation (2013395) | United States - Israel Binational Science Foundation (2013395) | National Institutes of Health (RO1AI104739)

Authors: Gur Yaari | Steven H. Kleinstein

https://doi.org/10.1186/s13073-015-0243-2 Actions

Footprints of antigen processing boost MHC class II natural ligand predictions

JOURNAL ARTICLE published December 2018 in Genome Medicine

Research funded by National Institute of Allergy and Infectious Diseases (HHSN272201200010C) | Consejo Nacional de Investigaciones Científicas y Técnicas (PICT-2016-0089)

Authors: Carolina Barra | Bruno Alvarez | Sinu Paul | Alessandro Sette | Bjoern Peters | Massimo Andreatta | Søren Buus | Morten Nielsen

https://doi.org/10.1186/s13073-018-0594-6 Actions

Best practices for variant calling in clinical sequencing

JOURNAL ARTICLE published December 2020 in Genome Medicine

Authors: Daniel C. Koboldt

https://doi.org/10.1186/s13073-020-00791-w Actions

Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19

JOURNAL ARTICLE published December 2021 in Genome Medicine

Research funded by National Institute on Aging (R01-AG067025,R01-AG065582) | Mount Sinai COVID-19 seed fund (0285VV12)

Authors: John F. Fullard | Hao-Chih Lee | Georgios Voloudakis | Shengbao Suo | Behnam Javidfar | Zhiping Shao | Cyril Peter | Wen Zhang | Shan Jiang | André Corvelo | Heather Wargnier | Emma Woodoff-Leith | Dushyant P. Purohit | Sadhna Ahuja | Nadejda M. Tsankova | Nathalie Jette | Gabriel E. Hoffman | Schahram Akbarian | Mary Fowkes | John F. Crary | Guo-Cheng Yuan | Panos Roussos

https://doi.org/10.1186/s13073-021-00933-8 Actions
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