Introduction Facilitated by recent technological advances, numerous human genomes are being sequenced, cataloging an unprecedented amount of genetic variants (GVs) 1 . A major challenge exists in identifying and interpreting potentially functional GVs. Disease-associated GVs ofte…
Study participants The use of human participants (IRB-4237) and human-derived induced pluripotent stem cells (SCRO-568) in this study has been approved by the Stanford Research Compliance Office. The UKBB received ethical approval from the North West—Haydock Research Ethics Commi…
Abstract We tested and clinically validated a targeted next-generation sequencing (NGS) mutation panel using 80 formalin-fixed, paraffin-embedded (FFPE) tumor samples. Forty non-small cell lung carcinoma (NSCLC), 30 melanoma, and 30 gastrointestinal (12 colonic, 10 gastric, and 8…
Abstract Background Whole exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of the genome remains poorly understood. Several sequencing-based assays continue to provide…
Haplotyping of human chromosomes is a prerequisite for cataloguing the full repertoire of genetic variation. We present a microfluidics-based linked-read sequencing technology that can phase and haplotype germline and cancer genomes using nanograms of input DNA. This high-through…
Carbohydrate Polymers 87 (2012) 1124–1130 Contents lists available at SciVerse ScienceDirect Carbohydrate Polymers journal homepage: www.elsevier.com/locate/carbpol Quantitative determination of cellulose dissolved in 1-ethyl-3-methylimidazolium acetate using partial least square…
Classification of M. tuberculosis L1 Among 1174 successfully sequenced M. tuberculosis isolates, 480 were initially identified by LSP as belonging to the Indo-Oceanic family and had the 330 SNPs, previously reported to be specific to L1 27 (Supplementary Table S1 ). The following…
Research Article Cell biology Oncology Free access | 10.1172/jci.insight.129749 Genomic analysis of benign prostatic hyperplasia implicates cellular relandscaping in disease pathogenesis 1 Department of Pathology, 2 Department of Urology, 3 Department of Biomedical Data Science, …
Impact that matters | SNV SNV at EAIF 2026 Scaling proven solutions and improving financing approaches to unlock investment in renewable energy. Find out more The latest from us Perspective Perspective: Closing the WASH financing gap Perspective Perspective: How young entrepreneu…
Abilene Christian University Digital Commons @ ACU Management Sciences College of Business Administration 6-9-2017 Value Chain Development With The Extremely Poor: Evidence And Lessons From CARE, Save The Children, And World Vision Monty Lynn [email protected] Dan Norell Emily Ja…
Abstract Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family…
AGRF Summit About the AGRF 2022 Summit The AGRF, Africa’s premier forum for driving the food and agriculture agenda in the continent, will host its 12th annual summit under the theme Grow. Nourish. Reward – Bold Actions for Resilient Food Systems from September 5-9, 2022 in Kigal…
Abstract We present the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly improves upon the contiguity observed from traditional shotgun sequencing approaches, with scaffo…
Results Design of a CAPP-Seq selector for NSCLC For the initial implementation of CAPP-Seq we focused on NSCLC, although our approach is generalizable to any cancer for which recurrent mutations have been identified. To design a selector for NSCLC ( Fig. 1b , Supplementary Table …
Introduction Since their discovery 10 years ago, induced pluripotent stem cells (iPSCs) have been used to model a multitude of “diseases in a dish” by utilizing lines derived from a relatively small number of diseased and healthy donors ( Avior et al., 2016 ). Several recent init…