Results 51 to 60 of about 487,550 (165)

P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation

Genetics in Medicine Open, 2023
Katie Golden-Grant, Amanda Buchanan, Alison Coffey, Yvonne Brew, Brittany Thomas, Akanchha Kesari, Denise Perry, Ryan Taft   +7 more
doaj   +1 more source

Raised Leptin and Pappalysin2 cell-free RNAs are the hallmarks of pregnancies complicated by preeclampsia with fetal growth restriction

Nature Communications
Preeclampsia (PE) and fetal growth restriction (FGR) complicate 5-10% of pregnancies and are major causes of maternal and fetal morbidity and mortality.
Sungsam Gong, Carlo Randise-Hinchliff, Suzanne Rohrback, Jing Yin Weng, Komal Singh, Sarah Shultzaberger, Ulla Sovio, Emma Cook, Fiona Kaper, Gordon C. S. Smith, D. Stephen Charnock-Jones   +10 more
doaj   +1 more source

Comparative Meta-Analysis of Long-Read and Short-Read Sequencing for Metagenomic Profiling of the Lower Respiratory Tract Infections

Microorganisms
Metagenomic next-generation sequencing (mNGS) is increasingly employed for the diagnosis of lower respiratory tract infections (LRTIs). However, the relative diagnostic performance of long-read versus short-read sequencing platforms remains incompletely ...
Giovanni Lorenzin, Maddalena Carlin
doaj   +1 more source

Cross-Platform Evaluation of Established NGS-Based Metabarcoding Methods for Detecting Food Fraud in Pistachio Products

Foods
Next Generation Sequencing is a constantly evolving technology whose applicability is increasingly expanding into the field of routine food analysis.
Sina Rammouz, Jochen Riehle, Ansgar Ferner, Markus Fischer, Christian Schäfers   +4 more
doaj   +1 more source

Illumina Sequencing Seminar Series

, 2010
Next week Brent Anderson with Illumina will be hosting a seminar series showcasing presentations from Vanderbilt scientists using Illumina technology to power their next-generation sequencing studies.
openaire   +1 more source

Illumina Sequencing [PDF]

, 2020
openaire   +1 more source

Candida auris sequencing by Illumina miSeq using Illumina DNA Prep v1

Candida auris sequencing is becoming more important for public health and surveillance. This protocol is designed to guide individuals experienced in sequencing in setting up a SOP for sequencing C. auris. This protocol is designed for Illumina short-read sequencing.
openaire   +1 more source

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES

Scientific Reports
Whole genome sequencing (WGS) comprehensively detects DNA sequence variation, enabling assessment of genetic disorders. The primary aim of this study was to investigate the diagnostic utility of WGS for pediatric musculoskeletal disorders by comparing it
Awtum M. Brashear, Anxhela G. Gustafson, Andrew Quitadamo, Emily Evangelista, Daelyn Quinn, Samuel P. Strom, Holly L. Snyder, Mauro Longoni, Kamran Shazand   +8 more
doaj   +1 more source

O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients*

Genetics in Medicine Open, 2023
Ryan Taft, Erin Thorpe, John Belmont, Taylor Williams, Chad Shaw, Jason Button, Julia Ortega, Keisha Robinson, Marilyn Jones, Diane Masser-Frye, Donald Basel, Chester Brown, Keith Vaux, Aime Lumaka, Fabio Sirchia, Milagros Dueñas Roque, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Nora Urraca, Alejandra Salguero, Samuel Wiafe, Romina Foster-Bonds, Erin Royer, Michelle Gallas, Pilar Magoulas, Adeline Vanderver, Marwan Shinawi, Alan Taylor, Kristen Fishler, Duncan Henry, Daria Salyakina, Kate Gibson, Melissa Lah, Alka Malhotra, James Avecilla, Andrew Warren, Denise Perry, Max Arseneault   +37 more
doaj   +1 more source

Illumina incubates innovators [PDF]

Nature Biotechnology, 2014
openaire   +1 more source