A global reference for human genetic variation

…, Y Han, V Korchina, C Kovar, S Lee, D Muzny, JG Reid… - Nature, 2015 - cdr.lib.unc.edu
The 1000 Genomes Project set out to provide a comprehensive description of common human
genetic variation by applying whole-genome sequencing to a diverse set of individuals …

[HTML][HTML] Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Y Yang, DM Muzny, JG Reid… - … England Journal of …, 2013 - Mass Medical Soc
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

Patterns and rates of exonic de novo mutations in autism spectrum disorders

…, Z Peralta, U Nagaswamy, D Muzny, JG Reid… - Nature, 2012 - nature.com
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …

[HTML][HTML] The Drosophila melanogaster Genetic Reference Panel

…, L Perales, LL Pu, C Qu, M Ràmia, JG Reid… - Nature, 2012 - nature.com
A major challenge of biology is understanding the relationship between molecular genetic
variation and variation in quantitative traits, including fitness. This relationship determines our …

[HTML][HTML] Exome sequencing and analysis of 454,787 UK Biobank participants

…, LA Lotta, JD Overton, MN Cantor, JG Reid… - Nature, 2021 - nature.com
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

Energy dependence of pion and kaon production in central Pb+ Pb collisions

…, A Petridis, M Pikna, L Pinsky, F Pühlhofer, JG Reid… - Physical Review C, 2002 - APS
Measurements of charged pion and kaon production in central Pb+ Pb collisions at 40, 80,
and 158 A GeV are presented. These are compared with data at lower and higher energies …

Functional and Evolutionary Insights from the Genomes of Three Parasitoid Nasonia Species

…, H Ranson, R Raychoudhury, A Rechtsteiner, JG Reid… - Science, 2010 - science.org
We report here genome sequences and comparative analyses of three closely related
parasitoid wasps: Nasonia vitripennis, N. giraulti, and N. longicornis. Parasitoids are important …

[HTML][HTML] Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology

…, M Wang, V Vee, J Qu, X Qin, DM Muzny, JG Reid… - PloS one, 2012 - journals.plos.org
Many genomes have been sequenced to high-quality draft status using Sanger capillary
electrophoresis and/or newer short-read sequence data and whole genome assembly …

The NA49 large acceptance hadron detector

…, DJ Prindle, F Pühlhofer, W Rauch, JG Reid… - Nuclear Instruments and …, 1999 - Elsevier
The NA49 detector is a wide acceptance spectrometer for the study of hadron production in
p+p, p+A, and A+A collisions at the CERN SPS. The main components are 4 large-volume …

[HTML][HTML] Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy

JR Lupski, JG Reid, C Gonzaga-Jauregui… - … England Journal of …, 2010 - Mass Medical Soc
Background Whole-genome sequencing may revolutionize medical diagnostics through rapid
identification of alleles that cause disease. However, even in cases with simple patterns of …