Results 11 to 20 of about 487,550 (165)
The diagnostic trajectory of infants and children with clinical features of genetic disease
npj Genomic Medicine, 2021 We characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care.
Brock E. Schroeder +6 more
doaj +1 more source
Cell Genomics, 2023 Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants.
Amanda R. Clause +25 more
doaj +1 more source
Monitoring Error Rates In Illumina Sequencing [PDF]
Journal of Biomolecular Techniques : JBT, 2016 Guaranteeing high-quality next-generation sequencing data in a rapidly changing environment is an ongoing challenge. The introduction of the Illumina NextSeq 500 and the depreciation of specific metrics from Illumina's Sequencing Analysis Viewer (SAV; Illumina, San Diego, CA, USA) have made it more difficult to determine directly the baseline error ...
Leigh J, Manley +2 more
openaire +2 more sources
Simulating Illumina metagenomic data with InSilicoSeq [PDF]
Bioinformatics, 2018 Abstract Motivation The accurate in silico simulation of metagenomic datasets is of great importance for benchmarking bioinformatics tools as well as for experimental design. Users are dependant on large-scale simulation to not only design experiments and new projects but also for accurate estimation ...
Hadrien Gourlé +3 more
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Nature Communications, 2022 Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5 ...
Mallory J. Owen +64 more
doaj +1 more source
QuorUM: An Error Corrector for Illumina Reads
PLOS ONE, 2015 Motivation: Illumina Sequencing data can provide high coverage of a genome by relatively short (100 bp150 bp) reads at a low cost. Our goal is to produce trimmed and error-corrected reads to improve genome assemblies. Our error correction procedure aims at producing a set of error-corrected reads (1) minimizing the number of distinct false k-mers, i.e.
Guillaume Marçais +2 more
openaire +4 more sources
Patient-reported outcomes associated with cancer screening: a systematic review
BMC Cancer, 2022 Background Multi-cancer early detection tests have been developed to enable earlier detection of multiple cancer types through screening. As reflected by patient-reported outcomes (PROs), the psychosocial impact of cancer screening is not yet clear.
Ashley Kim +3 more
doaj +1 more source
Statistical issues in the analysis of Illumina data [PDF]
BMC Bioinformatics, 2008 Illumina bead-based arrays are becoming increasingly popular due to their high degree of replication and reported high data quality. However, little attention has been paid to the pre-processing of Illumina data. In this paper, we present our experience of analysing the raw data from an Illumina spike-in experiment and offer guidelines for those ...
Mark J. Dunning +4 more
openaire +4 more sources
HERVs establish a distinct molecular subtype in stage II/III colorectal cancer with poor outcome
npj Genomic Medicine, 2021 Colorectal cancer (CRC) is one of the most lethal malignancies. The extreme heterogeneity in survival rate is driving the need for new prognostic biomarkers.
Mahdi Golkaram +27 more
doaj +1 more source
Quality Control for the Illumina HumanExome BeadChip [PDF]
Current Protocols in Human Genetics, 2016 AbstractThe Illumina HumanExome BeadChip and other exome‐based genotyping arrays offer inexpensive genotyping of some 240,000 mostly nonsynonymous coding variants across the human genome. The HumanExome chip, with its highly non‐uniform distribution of markers and emphasis on rare coding variants, presents some unique challenges for quality control (QC)
Robert P, Igo +4 more
openaire +2 more sources