Eliza Cerveira
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Explore the profile of Eliza Cerveira including associated specialties, affiliations and a list of published articles.
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12
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1854
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Recent Articles
1.
JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level
Lee W, Zhu Q, Yang X, Liu S, Cerveira E, Ryan M, et al.
Genomics Proteomics Bioinformatics
. 2022 Jan;
20(6):1197-1206.
PMID: 35085778
We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis. JAX-CNV is thus developed...
2.
Navarro F, Hoops J, Bellfy L, Cerveira E, Zhu Q, Zhang C, et al.
PLoS Comput Biol
. 2019 Aug;
15(8):e1007293.
PMID: 31425522
The Long interspersed nuclear element 1 (LINE-1) is a primary source of genetic variation in humans and other mammals. Despite its importance, LINE-1 activity remains difficult to study because of...
3.
Chaisson M, Sanders A, Zhao X, Malhotra A, Porubsky D, Rausch T, et al.
Nat Commun
. 2019 Apr;
10(1):1784.
PMID: 30992455
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies of human genetic diversity and disease association. Here, we apply a suite of long-read, short-read, strand-specific sequencing...
4.
Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, et al.
Eur J Hum Genet
. 2019 Mar;
27(7):1121-1133.
PMID: 30886340
Recent studies have demonstrated genetic differences between monozygotic (MZ) twins. To test the hypothesis that early post-twinning mutational events associate with phenotypic discordance, we investigated a cohort of 13 twin...
5.
Kim H, Kumar P, Menghi F, Noorbakhsh J, Cerveira E, Ryan M, et al.
Sci Rep
. 2018 Dec;
8(1):17937.
PMID: 30560892
The processes by which tumors evolve are essential to the efficacy of treatment, but quantitative understanding of intratumoral dynamics has been limited. Although intratumoral heterogeneity is common, quantification of evolution...
6.
Zhang C, Cerveira E, Rens W, Yang F, Lee C
Curr Protoc Hum Genet
. 2018 Sep;
99(1):e70.
PMID: 30215889
Analysis of the organization of the human genome is vital for understanding genetic diversity, human evolution, and disease pathogenesis. A number of approaches, such as multicolor fluorescence in situ hybridization...
7.
Zhu Q, High F, Zhang C, Cerveira E, Russell M, Longoni M, et al.
Proc Natl Acad Sci U S A
. 2018 May;
115(20):5247-5252.
PMID: 29712845
Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high...
8.
Wilkins-Haug L, Zhang C, Cerveira E, Ryan M, Mil-Homens A, Zhu Q, et al.
Prenat Diagn
. 2018 Apr;
38(6):445-458.
PMID: 29633279
Objective: Maternal plasma cell-free DNA (cfDNA) analysis is a powerful screening tool for Down syndrome. In a pilot series, we examined biologic causes of discordance between the cfDNA test results...
9.
Becker T, Lee W, Leone J, Zhu Q, Zhang C, Liu S, et al.
Genome Biol
. 2018 Mar;
19(1):38.
PMID: 29559002
Comprehensive and accurate identification of structural variations (SVs) from next generation sequencing data remains a major challenge. We develop FusorSV, which uses a data mining approach to assess performance and...
10.
Zhang C, Cerveira E, Romanovitch M, Zhu Q
Methods Mol Biol
. 2016 Dec;
1541:167-179.
PMID: 27910023
Copy number variations (CNVs) in the genomes have been suggested to play important roles in human evolution, genetic diversity, and disease susceptibility. A number of assays have been developed for...