Results 31 to 40 of about 194,869 (207)
BMC Cancer, 2019 Background Significant numbers of variants detected in cancer patients are often left labeled only as variants of unknown significance (VUS). In order to expand precision medicine to a wider population, we need to extend our knowledge of pathogenicity ...
Takahiko Koyama +2 more
doaj +1 more source
ISOWN: accurate somatic mutation identification in the absence of normal tissue controls. [PDF]
, 2017 BackgroundA key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor ...
Bartlett, John MS +5 more
core +1 more source
BMC Bioinformatics, 2018 Background Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice.
Marcos Díaz-Gay +5 more
doaj +1 more source
CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia
Platelets, 2022 Essential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene.
Nora El Jahrani +2 more
doaj +1 more source
Prominent features of the amino acid mutation landscape in cancer. [PDF]
PLoS ONE, 2017 Cancer can be viewed as a set of different diseases with distinctions based on tissue origin, driver mutations, and genetic signatures. Accordingly, each of these distinctions have been used to classify cancer subtypes and to reveal common features. Here,
Zachary A Szpiech +6 more
doaj +1 more source
SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]
, 2015 Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa +3 more
core +2 more sources
Somatic Variations in Cervical Cancers in Indian Patients. [PDF]
PLoS ONE, 2016 There are very few reports that describe the mutational landscape of cervical cancer, one of the leading cancers in Indian women. The aim of the present study was to investigate the somatic mutations that occur in cervical cancer.
Poulami Das +7 more
doaj +1 more source
Pockets as structural descriptors of EGFR kinase conformations [PDF]
, 2017 Epidermal Growth Factor Receptor (EGFR), a tyrosine kinase receptor, is one of the main tumor markers in different types of cancers. The kinase native state is mainly composed of two populations of conformers: active and inactive.
Barletta Roldan, Patricio German +4 more
core +1 more source
Comparative study of the evolution of cancer gene duplications across fish
Evolutionary Applications, 2022 Comparative studies of cancer‐related genes not only provide novel information about their evolution and function but also an understanding of cancer as a driving force in biological systems and species’ life histories. So far, these studies have focused
Ciara Baines +3 more
doaj +1 more source
Utilizing Protein Structure to Identify Non-Random Somatic Mutations [PDF]
, 2013 Motivation: Human cancer is caused by the accumulation of somatic mutations in tumor suppressors and oncogenes within the genome. In the case of oncogenes, recent theory suggests that there are only a few key "driver" mutations responsible for ...
Cheng, Yuwei +4 more
core +2 more sources