Results 111 to 120 of about 10,781,581 (397)

A Map of Recent Positive Selection in the Human Genome

open access: yesPLoS Biology, 2006
The identification of signals of very recent positive selection provides information about the adaptation of modern humans to local conditions. We report here on a genome-wide scan for signals of very recent positive selection in favor of variants that ...
B. Voight   +3 more
semanticscholar   +1 more source

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

open access: yesMolecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini   +11 more
wiley   +1 more source

PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

open access: yesGenome Biology, 2021
Long-read sequencing has been shown to have advantages in structural variation (SV) detection and methylation calling. Many studies focus either on SV, methylation, or phasing of SNV; however, only the combination of variants provides a comprehensive ...
Medhat Mahmoud   +3 more
doaj   +1 more source

Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors

open access: yesMolecular Oncology, EarlyView.
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi   +6 more
wiley   +1 more source

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells

open access: yesEpigenetics & Chromatin, 2019
Background The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression.
Temesgen D. Fufa   +6 more
doaj   +1 more source

SMA carrier testing using Real-time PCR as a potential preconception screening tool

open access: yesEgyptian Journal of Medical Human Genetics, 2022
Background SMA is a neuromuscular genetic disorder causing irreversible degeneration of the anterior horn cells of lower motor neurons. According to the age of onset and severity of the condition, it is classified into 5 subtypes. SMA carrier’s frequency
Noura Raafat Eissa   +4 more
doaj   +1 more source

Whole Genome Sequencing: Innovation Dream or Privacy Nightmare? [PDF]

open access: yesarXiv, 2012
Over the past several years, DNA sequencing has emerged as one of the driving forces in life-sciences, paving the way for affordable and accurate whole genome sequencing. As genomes represent the entirety of an organism's hereditary information, the availability of complete human genomes prompts a wide range of revolutionary applications.
arxiv  

Student faculty forum: Human genome editing [PDF]

open access: yes, 2017
Join us in discussion of the science behind the revolution in reading and manipulating the genome, possibilities for the future, and the ethical and legal issues in the field of genomics. Special guests include: Gustavo Mostoslavsky, Assoc.
Boston University Howard Thurman Center for Common Ground
core  

Cyclin D1-mediated microRNA expression signature predicts breast cancer outcome [PDF]

open access: yes, 2018
Background: Genetic classification of breast cancer based on the coding mRNA suggests the evolution of distinct subtypes. Whether the non-coding genome is altered concordantly with the coding genome and the mechanism by which the cell cycle directly ...
Addya, Sankar   +16 more
core   +2 more sources

KRAS and GNAS mutations in cell‐free DNA and in circulating epithelial cells in patients with intraductal papillary mucinous neoplasms—an observational pilot study

open access: yesMolecular Oncology, EarlyView.
This study demonstrates that KRAS and GNAS mutations are more prevalent in patients with resected intraductal papillary mucinous neoplasms (IPMN) compared to those under clinical surveillance. GNAS mutations significantly differ between the two patient cohorts, indicating that their absence may serve as a potential biomarker to support conservative ...
Christine Nitschke   +12 more
wiley   +1 more source

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