Elliott H Margulies
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Explore the profile of Elliott H Margulies including associated specialties, affiliations and a list of published articles.
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43
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7132
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Recent Articles
1.
Eberle M, Fritzilas E, Krusche P, Kallberg M, Moore B, Bekritsky M, et al.
Genome Res
. 2016 Dec;
27(1):157-164.
PMID: 27903644
Improvement of variant calling in next-generation sequence data requires a comprehensive, genome-wide catalog of high-confidence variants called in a set of genomes for use as a benchmark. We generated deep,...
2.
Prickett T, Zerlanko B, Gartner J, Parker S, Dutton-Regester K, Lin J, et al.
J Invest Dermatol
. 2013 Sep;
134(2):452-460.
PMID: 24008424
Patients with advanced metastatic melanoma have poor prognosis and the genetics underlying its pathogenesis are poorly understood. High-throughput sequencing has allowed comprehensive discovery of somatic mutations in cancer samples. Here,...
3.
Gartner J, Parker S, Prickett T, Dutton-Regester K, Stitzel M, Lin J, et al.
Proc Natl Acad Sci U S A
. 2013 Aug;
110(33):13481-6.
PMID: 23901115
Synonymous mutations, which do not alter the protein sequence, have been shown to affect protein function [Sauna ZE, Kimchi-Sarfaty C (2011) Nat Rev Genet 12(10):683-691]. However, synonymous mutations are rarely...
4.
Belgard T, Montiel J, Wang W, Garcia-Moreno F, Margulies E, Ponting C, et al.
Proc Natl Acad Sci U S A
. 2013 Jul;
110(32):13150-5.
PMID: 23878249
The thorniest problem in comparative neurobiology is the identification of the particular brain region of birds and reptiles that corresponds to the mammalian neocortex [Butler AB, Reiner A, Karten HJ...
5.
Goldstein D, Allen A, Keebler J, Margulies E, Petrou S, Petrovski S, et al.
Nat Rev Genet
. 2013 Jun;
14(7):460-70.
PMID: 23752795
Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are...
6.
Raczy C, Petrovski R, Saunders C, Chorny I, Kruglyak S, Margulies E, et al.
Bioinformatics
. 2013 Jun;
29(16):2041-3.
PMID: 23736529
Summary: An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48 GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that...
7.
Parker S, Gartner J, Cardenas-Navia I, Wei X, Abaan H, Ajay S, et al.
PLoS Genet
. 2012 Aug;
8(8):e1002871.
PMID: 22912592
Much emphasis has been placed on the identification, functional characterization, and therapeutic potential of somatic variants in tumor genomes. However, the majority of somatic variants lie outside coding regions and...
8.
Shibata Y, Sheffield N, Fedrigo O, Babbitt C, Wortham M, Tewari A, et al.
PLoS Genet
. 2012 Jul;
8(6):e1002789.
PMID: 22761590
Understanding the molecular basis for phenotypic differences between humans and other primates remains an outstanding challenge. Mutations in non-coding regulatory DNA that alter gene expression have been hypothesized as a...
9.
Hogart A, Lichtenberg J, Ajay S, Anderson S, Margulies E, Bodine D
Genome Res
. 2012 Jun;
22(8):1407-18.
PMID: 22684279
DNA methylation is an essential epigenetic mark that is required for normal development. Knockout of the DNA methyltransferase enzymes in the mouse hematopoietic compartment reveals that methylation is critical for...
10.
Lindblad-Toh K, Garber M, Zuk O, Lin M, Parker B, Washietl S, et al.
Nature
. 2011 Oct;
478(7370):476-82.
PMID: 21993624
The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at...