Results 101 to 110 of about 566,210 (290)

Benchmarking of de novo assembly algorithms for Nanopore data reveals optimal performance of OLC approaches [PDF]

open access: yes, 2016
Improved DNA sequencing methods have transformed the field of genomics over the last decade. This has become possible due to the development of inexpensive short read sequencing technologies which have now resulted in three generations of sequencing ...
Cherukuri, Yesesri   +1 more
core   +1 more source

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

open access: yesMolecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts   +8 more
wiley   +1 more source

Resolving the Complexity of Human Skin Metagenomes Using Single-Molecule Sequencing

open access: yesmBio, 2016
Deep metagenomic shotgun sequencing has emerged as a powerful tool to interrogate composition and function of complex microbial communities. Computational approaches to assemble genome fragments have been demonstrated to be an effective tool for de novo ...
Yu-Chih Tsai   +6 more
doaj   +1 more source

Cerulean: A hybrid assembly using high throughput short and long reads

open access: yes, 2013
Genome assembly using high throughput data with short reads, arguably, remains an unresolvable task in repetitive genomes, since when the length of a repeat exceeds the read length, it becomes difficult to unambiguously connect the flanking regions.
D.R. Zerbino   +14 more
core   +1 more source

State of the art de novo assembly of human genomes from massively parallel sequencing data [PDF]

open access: yes, 2010
Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches.
Bolund, Lars   +3 more
core   +2 more sources

Adenosine‐to‐inosine editing of miR‐200b‐3p is associated with the progression of high‐grade serous ovarian cancer

open access: yesMolecular Oncology, EarlyView.
A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira   +14 more
wiley   +1 more source

Minimap2: pairwise alignment for nucleotide sequences

open access: yes, 2018
Motivation: Recent advances in sequencing technologies promise ultra-long reads of $\sim$100 kilo bases (kb) in average, full-length mRNA or cDNA reads in high throughput and genomic contigs over 100 mega bases (Mb) in length. Existing alignment programs
Li, Heng
core   +1 more source

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

open access: yesMolecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian   +10 more
wiley   +1 more source

A Reference-Free Algorithm for Computational Normalization of Shotgun Sequencing Data [PDF]

open access: yes, 2012
Deep shotgun sequencing and analysis of genomes, transcriptomes, amplified single-cell genomes, and metagenomes has enabled investigation of a wide range of organisms and ecosystems. However, sampling variation in short-read data sets and high sequencing
Brom, Timothy H.   +4 more
core   +1 more source

Haplotype-based variant detection from short-read sequencing

open access: yes, 2012
The direct detection of haplotypes from short-read DNA sequencing data requires changes to existing small-variant detection methods. Here, we develop a Bayesian statistical framework which is capable of modeling multiallelic loci in sets of individuals with non-uniform copy number.
Garrison, Erik, Marth, Gabor
openaire   +2 more sources

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