Results 101 to 110 of about 9,740,536 (302)

DataSheet_1_SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes.pdf

open access: yes, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Guosong Wang (6701024)   +5 more
core   +1 more source

Rare copy number variants contribute to congenital left-sided heart disease.

open access: yesPLoS Genetics, 2012
Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology.
Marc-Phillip Hitz   +27 more
doaj   +1 more source

Metastatic niche shaped by host factors influences disseminated cancer cell fate

open access: yesFEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward   +2 more
wiley   +1 more source

Image_1_SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes.pdf

open access: yes, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Guosong Wang (6701024)   +5 more
core   +1 more source

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia [PDF]

open access: yes, 2009
We report a genome-wide assessment of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) in schizophrenia. We investigated SNPs using 871 patients and 863 controls, following up the top hits in four independent cohorts comprising 1 ...
Rujescu, D.   +218 more
core   +1 more source

Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research

open access: yesFEBS Letters, EarlyView.
What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley   +1 more source

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits [PDF]

open access: yes, 2011
Nonalcoholic fatty liver disease (NAFLD) clusters in families, but the only known common genetic variants influencing risk are near PNPLA3. We sought to identify additional genetic variants influencing NAFLD using genome-wide association (GWA) analysis ...
Palmer Cameron D.   +803 more
core   +5 more sources

EXCAVATOR: detecting copy number variants from whole-??exome sequencing data [PDF]

open access: yes, 2013
We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a three-step normalization procedure with a novel heterogeneous hidden Markov model algorithm and a ...
B. Giusti   +51 more
core   +2 more sources

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

open access: yesMolecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce   +11 more
wiley   +1 more source

DataSheet_2_SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes.pdf

open access: yes, 2020
Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or ...
Guosong Wang (6701024)   +5 more
core   +1 more source

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