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Showing results for ISSN matching 1756-994X

Classification of unknown primary tumors with a data-driven method based on a large microarray reference database

JOURNAL ARTICLE published 2011 in Genome Medicine

Authors: Kalle A Ojala | Sami K Kilpinen | Olli P Kallioniemi

https://doi.org/10.1186/gm279 Actions

Clinical implications of neoepitope landscapes for adult and pediatric cancers

JOURNAL ARTICLE published December 2017 in Genome Medicine

Research funded by National Human Genome Research Institute (HG007940) | National Cancer Institute (CA209936,CA188163)

Authors: Yang-Yang Feng | Obi L. Griffith | Malachi Griffith

https://doi.org/10.1186/s13073-017-0470-9 Actions

Identification of novel candidate disease genes from de novo exonic copy number variants

JOURNAL ARTICLE published December 2017 in Genome Medicine

Research funded by National Institutes of Health (U54 HG006542) | National Institutes of Health (R01 NS058529) | Polish Budget Founds (IP2015 019874) | American Academy of Neurology (AAN Neuroscience Research Scholarship) | National Institute of Neurological Disorders and Stroke (CNCDP-K12 Fellowship)

Authors: Tomasz Gambin | Bo Yuan | Weimin Bi | Pengfei Liu | Jill A. Rosenfeld | Zeynep Coban-Akdemir | Amber N. Pursley | Sandesh C. S. Nagamani | Ronit Marom | Sailaja Golla | Lauren Dengle | Heather G. Petrie | Reuben Matalon | Lisa Emrick | Monica B. Proud | Diane Treadwell-Deering | Hsiao-Tuan Chao | Hannele Koillinen | Chester Brown | Nora Urraca | Roya Mostafavi | Saunder Bernes | Elizabeth R. Roeder | Kimberly M. Nugent | Patricia I. Bader | Gary Bellus | Michael Cummings | Hope Northrup | Myla Ashfaq | Rachel Westman | Robert Wildin | Anita E. Beck | LaDonna Immken | Lindsay Elton | Shaun Varghese | Edward Buchanan | Laurence Faivre | Mathilde Lefebvre | Christian P. Schaaf | Magdalena Walkiewicz | Yaping Yang | Sung-Hae L. Kang | Seema R. Lalani | Carlos A. Bacino | Arthur L. Beaudet | Amy M. Breman | Janice L. Smith | Sau Wai Cheung | James R. Lupski | Ankita Patel | Chad A. Shaw | Paweł Stankiewicz

https://doi.org/10.1186/s13073-017-0472-7 Actions

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

JOURNAL ARTICLE published December 2017 in Genome Medicine

Research funded by National Human Genome Research Institute (HG007436-01) | National Human Genome Research Institute (U41HG006834,1U01HG007436-01,U01HG006500,U01HG006507,U01HG007307)

Authors: Ronak Y. Patel | on behalf of the ClinGen Resource | Neethu Shah | Andrew R. Jackson | Rajarshi Ghosh | Piotr Pawliczek | Sameer Paithankar | Aaron Baker | Kevin Riehle | Hailin Chen | Sofia Milosavljevic | Chris Bizon | Shawn Rynearson | Tristan Nelson | Gail P. Jarvik | Heidi L. Rehm | Steven M. Harrison | Danielle Azzariti | Bradford Powell | Larry Babb | Sharon E. Plon | Aleksandar Milosavljevic

https://doi.org/10.1186/s13073-016-0391-z 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

Rational design of cancer gene panels with OncoPaD

JOURNAL ARTICLE published December 2016 in Genome Medicine

Research funded by Ministerio de Economía y Competitividad (SAF2012-36199,RYC-2013-14554)

Authors: Carlota Rubio-Perez | Jordi Deu-Pons | David Tamborero | Nuria Lopez-Bigas | Abel Gonzalez-Perez

https://doi.org/10.1186/s13073-016-0349-1 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

BAIT: Organizing genomes and mapping rearrangements in single cells

JOURNAL ARTICLE published 2013 in Genome Medicine

Authors: Mark Hills | Kieran O’Neill | Ester Falconer | Ryan Brinkman | Peter M Lansdorp

https://doi.org/10.1186/gm486 Actions

Early detection of hepatocellular carcinoma via no end-repair enzymatic methylation sequencing of cell-free DNA and pre-trained neural network

JOURNAL ARTICLE published 8 November 2023 in Genome Medicine

Research funded by Shanghai Jiao Tong University (YG2019QNA40)

Authors: Zhenzhong Deng | Yongkun Ji | Bing Han | Zhongming Tan | Yuqi Ren | Jinghan Gao | Nan Chen | Cong Ma | Yichi Zhang | Yunhai Yao | Hong Lu | Heqing Huang | Midie Xu | Lei Chen | Leizhen Zheng | Jianchun Gu | Deyi Xiong | Jianxin Zhao | Jinyang Gu | Zutao Chen | Ke Wang

https://doi.org/10.1186/s13073-023-01238-8 Actions

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

Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

JOURNAL ARTICLE published 16 November 2022 in Genome Medicine

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 | Jae Hoon Sul | Noah Zaitlen | Valerie A. Arboleda | Eran Halperin | Sriram Sankararaman | Manish J. Butte | Clara Lajonchere | Daniel H. Geschwind | Bogdan Pasaniuc | UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working Group

https://doi.org/10.1186/s13073-022-01128-5 Actions

Coping with antibiotic resistance: contributions from genomics

JOURNAL ARTICLE published 2010 in Genome Medicine

Authors: Gian Rossolini | Maria Thaller

https://doi.org/10.1186/gm136 Actions

Preimplantation genetic diagnosis guided by single-cell genomics

JOURNAL ARTICLE published August 2013 in Genome Medicine

Authors: Niels Van der Aa | Masoud Zamani Esteki | Joris R Vermeesch | Thierry Voet

https://doi.org/10.1186/gm475 Actions

Identification of the BRD1 interaction network and its impact on mental disorder risk

JOURNAL ARTICLE published December 2016 in Genome Medicine

Authors: Tue Fryland | Jane H. Christensen | Jonatan Pallesen | Manuel Mattheisen | Johan Palmfeldt | Mads Bak | Jakob Grove | Ditte Demontis | Jenny Blechingberg | Hong Sain Ooi | Mette Nyegaard | Mads E. Hauberg | Niels Tommerup | Niels Gregersen | Ole Mors | Thomas J. Corydon | Anders L. Nielsen | Anders D. Børglum

https://doi.org/10.1186/s13073-016-0308-x Actions

Correction: Genomic vulnerability to LINE-1 hypomethylation is a potential determinant of the clinicogenetic features of multiple myeloma

JOURNAL ARTICLE published 2013 in Genome Medicine

Authors: Yuka Aoki | Masanori Nojima | Hiromu Suzuki | Hiroshi Yasui | Reo Maruyama | Eiichiro Yamamoto | Masami Ashida | Mitsuhiro Itagaki | Hideki Asaoku | Hiroshi Ikeda | Toshiaki Hayashi | Kohzoh Imai | Mitsuru Mori | Takashi Tokino | Tadao Ishida | Minoru Toyota | Yasuhisa Shinomura

https://doi.org/10.1186/gm491 Actions

Look, no hands! Spectral biomarkers from genetic association studies

JOURNAL ARTICLE published 2013 in Genome Medicine

Authors: Michael Inouye | Gad Abraham

https://doi.org/10.1186/gm418 Actions

Correction to: NSAID use and somatic exomic mutations in Barrett’s esophagus

JOURNAL ARTICLE published December 2019 in Genome Medicine

Authors: Patricia C. Galipeau | Kenji M. Oman | Thomas G. Paulson | Carissa A. Sanchez | Qing Zhang | Jerry A. Marty | Jeffrey J. Delrow | Mary K. Kuhner | Thomas L. Vaughan | Brian J. Reid | Xiaohong Li

https://doi.org/10.1186/s13073-019-0625-y Actions

Searching for the true genetic vulnerability for schizophrenia

JOURNAL ARTICLE published 2009 in Genome Medicine

Authors: Lynn E DeLisi

https://doi.org/10.1186/gm14 Actions
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