Results 1 to 10 of about 724,062 (300)
Reliability of DNA methylation measures using Illumina methylation BeadChip
Epigenetics, 2021 Illumina BeadChips are widely utilized in epigenome-wide association studies (EWAS). Several studies have reported that many probes on these arrays have poor reliability.
Zongli Xu, Jack A Taylor
exaly +2 more sources
Nature Communications, 2022 As CRISPR-based therapies enter the clinic, evaluation of safety remains a critical and active area of study. Here the authors use next generation sequencing to achieve high sequencing depth and demonstrate that clinically relevant delivery of high ...
M. Kyle Cromer +11 more
doaj +1 more source
Bead-linked transposomes enable a normalization-free workflow for NGS library preparation
BMC Genomics, 2018 Background Transposome-based technologies have enabled the streamlined production of sequencer-ready DNA libraries; however, current methods are highly sensitive to the amount and quality of input nucleic acid.
Stephen Bruinsma +17 more
doaj +1 more source
International Journal of Neonatal Screening, 2023 The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world.
David J. McBride +13 more
doaj +1 more source
BMC Microbiology, 2023 The microbiota that colonize the human gut and other tissues are dynamic, varying both in composition and functional state between individuals and over time.
Asako Tan +13 more
doaj +1 more source
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
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
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
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