User profiles for Jeffrey G. Reid

Jeffrey Reid

Regeneron Pharmaceuticals
Verified email at regeneron.com
Cited by 128554

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 …

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] 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…

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

…, JD Overton, MN Cantor, JG Reid, G Yancopoulos… - 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 …

[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 …

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

…, JG Reid, R Renfordt, W Retyk, C Roland, G Roland… - 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 …

[PDF][PDF] The somatic genomic landscape of chromophobe renal cell carcinoma

…, H Chao, M Dahdouli, L Xi, N Kakkar, JG Reid… - Cancer cell, 2014 - cell.com
We describe the landscape of somatic genomic alterations of 66 chromophobe renal cell
carcinomas (ChRCCs) on the basis of multidimensional and comprehensive characterization, …

[PDF][PDF] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

…, E Zengini, G Alexiadis, A Barysenka, G Bjornsdottir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …