Results 31 to 40 of about 644,208 (305)

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Nature Communications, 2017
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, the authors sequence childhood and adult osteosarcomas, identifying mutations in insulin-like growth factor signalling genes and distinct genomic rearrangement profiles ...
Sam Behjati, Patrick S. Tarpey, Kerstin Haase, Hongtao Ye, Matthew D. Young, Ludmil B. Alexandrov, Sarah J. Farndon, Grace Collord, David C. Wedge, Inigo Martincorena, Susanna L. Cooke, Helen Davies, William Mifsud, Mathias Lidgren, Sancha Martin, Calli Latimer, Mark Maddison, Adam P. Butler, Jon W. Teague, Nischalan Pillay, Adam Shlien, Ultan McDermott, P. Andrew Futreal, Daniel Baumhoer, Olga Zaikova, Bodil Bjerkehagen, Ola Myklebost, M. Fernanda Amary, Roberto Tirabosco, Peter Van Loo, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell   +32 more
doaj   +1 more source

Anaplastic thyroid cancer: genome-based search for new targeted therapy options

Endocrine Connections, 2022
Objective: Anaplastic thyroid cancer (ATC) is one of the most lethal human cancers with meager treatment options. We aimed to identify the targeted drugs already approved by the Food and Drug Administration (FDA) for solid cancer in general, which could ...
Daniel Alexander Hescheler, Milan Janis Michael Hartmann, Burkhard Riemann, Maximilian Michel, Christiane Josephine Bruns, Hakan Alakus, Costanza Chiapponi   +6 more
doaj   +1 more source

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis

Frontiers in Endocrinology, 2021
BackgroundA limited number of targeted therapy options exist for papillary thyroid cancer (PTC) to date. Based on genetic alterations reported by the “The Cancer Genome Atlas (TCGA)”, we explored whether PTC shows alterations that may be targetable by ...
Daniel A. Hescheler, Daniel A. Hescheler, Burkhard Riemann, Milan J. M. Hartmann, Maximilian Michel, Michael Faust, Christiane J. Bruns, Hakan Alakus, Costanza Chiapponi   +8 more
doaj   +1 more source

Race: How the Post-Genomic Era Has Unmasked a Misconception Promoted by Healthcare

Medicina, 2023
The term “race” has been employed to categorize human beings into distinct groups based on some perceived biological distinctions. This concept was debunked with the completion of the Human Genome Project and its revolutionary findings that all humans ...
Donna Schaare, Ludovico Abenavoli, Luigi Boccuto   +2 more
doaj   +1 more source

Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population

Frontiers in Immunology, 2023
Primary biliary cholangitis (PBC) is a rare autoimmune disease with a clear predisposition for human leukocyte antigen (HLA)-DR/DQ-associated loss of immune tolerance for the E2 component of the pyruvate dehydrogenase complex.
Seik-Soon Khor, Kazuko Ueno, Nao Nishida, Nao Nishida, Minae Kawashima, Yosuke Kawai, Yoshihiro Aiba, Yuki Hitomi, Masao Nagasaki, Masao Nagasaki, Minoru Nakamura, Minoru Nakamura, Minoru Nakamura, Katsushi Tokunaga   +13 more
doaj   +1 more source

The human genome sequencing race ended 20 years ago [PDF]

The Ukrainian Biochemical Journal, 2020
The Human Genome Project, one of the most grandiose in contemporary science, was officially launched in 1990. The project aimed at determining the human DNA primary structure and gene localization and functions as well as ensuring free access of ...
M. V. Grigorieva, S. V. Komisarenko
doaj   +1 more source

Inferring selective constraint from population genomic data suggests recent regulatory turnover in the human brain [PDF]

, 2013
The comparative genomics revolution of the past decade has enabled the discovery of functional elements in the human genome via sequence comparison. While that is so, an important class of elements, those specific to humans, is entirely missed by searching for sequence conservation across species.
arxiv   +1 more source

The Software Genome Project: Venture to the Genomic Pathways of Open Source Software and Its Applications [PDF]

arXiv, 2023
With the boom in modern software development, open-source software has become an integral part of various industries, driving progress in computer science. However, the immense complexity and diversity of the open-source ecosystem also pose a series of challenges, including issues of quality, security, management, maintenance, compliance, and ...
arxiv  

Bayesian History Reconstruction of Complex Human Gene Clusters on a Phylogeny [PDF]

Comparative Genomics, International Workshop (RECOMB-CG), 5817 volume of Lecture Notes in Bioinformatics, pp. 150-163, Budapest, September 2009. Springer, 2009
Clusters of genes that have evolved by repeated segmental duplication present difficult challenges throughout genomic analysis, from sequence assembly to functional analysis. Improved understanding of these clusters is of utmost importance, since they have been shown to be the source of evolutionary innovation, and have been linked to multiple diseases,
arxiv   +1 more source

Bacteria-human somatic cell lateral gene transfer is enriched in cancer samples. [PDF]

PLoS Computational Biology, 2013
There are 10× more bacterial cells in our bodies from the microbiome than human cells. Viral DNA is known to integrate in the human genome, but the integration of bacterial DNA has not been described. Using publicly available sequence data from the human
David R Riley, Karsten B Sieber, Kelly M Robinson, James Robert White, Ashwinkumar Ganesan, Syrus Nourbakhsh, Julie C Dunning Hotopp   +6 more
doaj   +1 more source