Results 101 to 110 of about 363,020 (279)

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]

open access: yes, 2017
Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric   +47 more
core   +2 more sources

Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample

open access: yesCancer Cell International, 2022
Background Prostate cancer (PCa) is characterized by complex genomic rearrangements such as the ETS oncogene family fusions, yet the clinical relevance is not well established.
Yeeun Shim   +9 more
doaj   +1 more source

Molecular cancer prevention: Intercepting disease

open access: yesMolecular Oncology, EarlyView.
Oncological practice must evolve, from treating established tumours to proactive cancer interception before clinical manifestation. This will require mechanistic insight into tumour initiation, validated biomarkers of early disease development and redesigned clinical trials, enabling cancer interception to become a core pillar of oncology with the ...
Charlotte Grieco   +2 more
wiley   +1 more source

Pharmacogenomics in children: advantages and challenges of next generation sequencing applications [PDF]

open access: yes, 2013
Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found
De Paepe, Anne, Vanakker, Olivier
core   +4 more sources

Evolution of genomic structural variation and genomic architecture in the adaptive radiations of African cichlid fishes

open access: yesFrontiers in Genetics, 2014
African cichlid fishes are an ideal system for studying explosive rates of speciation and the origin of diversity in adaptive radiation. Within the last few million years, more than 2000 species have evolved in the Great Lakes of East Africa, the largest
Shaohua eFan, Axel eMeyer
doaj   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

open access: yesMolecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel   +12 more
wiley   +1 more source

Ecological and evolutionary implications of genomic structural variations [PDF]

open access: yesFrontiers in Genetics, 2014
Large genomic segments spanning millions of nucleotides commonly differ between any two genomes, including between monozygotic twins (Bruder et al., 2008). These structural variations (SVs) include deletions, insertions, duplications, inversions, and translocations.
Frédéric JJ Chain   +3 more
openaire   +5 more sources

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

open access: yesFEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz   +6 more
wiley   +1 more source

Identifying rhesus macaque gene orthologs using heterospecific human CNV probes

open access: yesGenomics Data, 2015
We used the Affymetrix® Genome-Wide Human SNP Array 6.0 to identify heterospecific markers and compare copy number and structural genomic variation between humans and rhesus macaques. Over 200,000 human copy number variation (CNV) probes were mapped to a
Jillian Ng   +4 more
doaj   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

open access: yesFEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon   +6 more
wiley   +1 more source

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