Results 71 to 80 of about 913,987 (276)

A Novel Bioinformatic Approach to Understanding Addiction [PDF]

open access: yes, 2017
Finding the genetic markers that influence complex, multigenic substance addiction phenotypes has been an area of significant medical study. Understanding complex disease traits like addiction has been hampered by the lack of functional insights into ...
Jackson, Latifa F.
core   +1 more source

SMaSH: A Benchmarking Toolkit for Human Genome Variant Calling

open access: yes, 2014
Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human
Bresler, Ma'ayan   +9 more
core   +1 more source

Pre‐analytical optimization of cell‐free DNA and extracellular vesicle‐derived DNA for mutation detection in liquid biopsies

open access: yesMolecular Oncology, EarlyView.
Pre‐analytical handling critically determines liquid biopsy performance. This study defines practical best‐practice conditions for cell‐free DNA (cfDNA) and extracellular vesicle–derived DNA (evDNA), showing how processing time, storage conditions, tube type, and plasma input volume affect DNA integrity and mutation detection.
Jonas Dohmen   +11 more
wiley   +1 more source

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy

open access: yesBMC Neurology
Background Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left–right determinations during embryonic development. We aimed to determine the
Kei Kaburagi   +10 more
doaj   +1 more source

Human microbiome, applied to clinical practice

open access: yesРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии, 2018
The aim of review. The Human microbiome project was designed for identification and characterization of set of human microorganisms as well as for studying the changes in the human health due to microbiome changes.
V. T. Ivashkin, K. V. Ivashkin
doaj   +1 more source

The impact of short tandem repeat variation on gene expression. [PDF]

open access: yes, 2019
Short tandem repeats (STRs) have been implicated in a variety of complex traits in humans. However, genome-wide studies of the effects of STRs on gene expression thus far have had limited power to detect associations and provide insights into putative ...
Fotsing, Stephanie Feupe   +7 more
core   +1 more source

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

open access: yesMolecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau   +36 more
wiley   +1 more source

Archaic mitochondrial DNA inserts in modern day nuclear genomes

open access: yes, 2019
Traces of interbreeding of Neanderthals and Denisovans with modern humans in the form of archaic DNA have been detected in the genomes of present-day human populations outside sub-Saharan Africa.
Bücking, R.   +5 more
core   +1 more source

Engineered extracellular vesicles enriched with the miR‐214/199a cluster enhance the efficacy of chemotherapy in ovarian cancer

open access: yesMolecular Oncology, EarlyView.
Loss of the miR‐214/199a cluster is associated with recurrence in ovarian cancer. Engineered small extracellular vesicles (m214‐sEVs) elevate miR‐214‐3p/miR‐199a‐5p in tumor cells, suppress β‐catenin, TLR4, and YKT6 signaling, reprogram tumor‐derived sEV cargo, reduce chemoresistance and migration, and enhance carboplatin efficacy and survival in ...
Weida Wang   +12 more
wiley   +1 more source

Using genotyping-by-sequencing to understand Musa diversity : [P449] [PDF]

open access: yes, 2014
This project is part of a larger effort to apply genomics technologies to assess genetic diversity and to advance genetic improvement efforts in Musa (banana and plantain), a major staple food crop in the developing world.
Chan, Agnes P.   +6 more
core  

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