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Natalia Volfovsky
Science Applications International Corporation
30Publications
15H-index
1,223Citations
Publications 30
Newest
2019 in bioRxiv
Pamela Feliciano , Xueya Zhou1
Estimated H-index: 1
(Columbia University)
+ 15 AuthorsDonna M. Muzny95
Estimated H-index: 95
(Baylor College of Medicine)
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DN...
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Andreas Buja36
Estimated H-index: 36
(University of Pennsylvania),
Natalia Volfovsky15
Estimated H-index: 15
+ 4 AuthorsIvan Iossifov22
Estimated H-index: 22
(Cold Spring Harbor Laboratory)
In individuals with autism spectrum disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ but not with the core characteristics of ASD: deficits in social communication and interaction and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impaire...
3 Citations Download PDF Cite
2017 in bioRxiv
Andreas Buja36
Estimated H-index: 36
(University of Pennsylvania),
Natalia Volfovsky15
Estimated H-index: 15
+ 4 AuthorsIvan Iossifov22
Estimated H-index: 22
(Cold Spring Harbor Laboratory)
In individuals with Autism Spectrum Disorder (ASD), de novo mutations have previously been shown to be significantly correlated with lower IQ, but not with the core characteristics of ASD: deficits in social communication and interaction, and restricted interests and repetitive patterns of behavior. We extend these findings by demonstrating in the Simons Simplex Collection that damaging de novo mutations in ASD individuals are also significantly and convincingly correlated with measures of impai...
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2016 in Nucleic Acids ResearchIF: 11.56
Evan H. Baugh5
Estimated H-index: 5
(New York University),
Riley Simmons-Edler1
Estimated H-index: 1
(New York University)
+ 4 AuthorsRichard Bonneau28
Estimated H-index: 28
Existing methods for interpreting protein variation focus on annotating mutation pathogenicity rather than detailed interpretation of variant deleteriousness and frequently use only sequence-based or structure-based information. We present VIPUR, a computational framework that seamlessly integrates sequence analysis and structural modelling (using the Rosetta protein modelling suite) to identify and interpret deleterious protein variants. To train VIPUR, we collected 9477 protein variants with k...
13 Citations Download PDF Cite
2016 in bioRxiv
Arjun Krishnan14
Estimated H-index: 14
(Princeton University),
Ran Zhang3
Estimated H-index: 3
(Princeton University)
+ 7 AuthorsOlga G. Troyanskaya49
Estimated H-index: 49
(Princeton University)
Autism spectrum disorder (ASD) is a range of major neurodevelopmental disabilities with a strong genetic basis. Yet, owing to extensive genetic heterogeneity, multiple modes of inheritance and limited study sizes, sequencing and quantitative genetics approaches have had limited success in characterizing the complex genetics of ASD. Currently, only a small fraction of potentially causal genes -about 65 genes out of an estimated several hundred- are known based on strong genetic evidence. Hence, t...
1 Citations Download PDF Cite
2016 in Nature NeuroscienceIF: 19.91
Arjun Krishnan14
Estimated H-index: 14
(Princeton University),
Ran Zhang3
Estimated H-index: 3
(Princeton University)
+ 7 AuthorsOlga G. Troyanskaya49
Estimated H-index: 49
(Princeton University)
Autism spectrum disorder is a complex disease with a strong genetic basis that remains under-characterized by current genetics studies. Here, the authors use a computational approach based on a human brain-specific gene network to predict autism-associated genes across the genome and further delineate their functional and developmental characteristics.
49 Citations Source Cite
2014 in BioinformaticsIF: 5.48
Hue Vuong2
Estimated H-index: 2
(Science Applications International Corporation),
Robert M. Stephens57
Estimated H-index: 57
(Science Applications International Corporation),
Natalia Volfovsky15
Estimated H-index: 15
(Science Applications International Corporation)
Motivation: The plethora of information that emerges from large-scale genome characterization studies has triggered the development of computational frameworks and tools for efficient analysis, interpretation and visualization of genomic data. Functional annotation of genomic variations and the ability to visualize the data in the context of whole genome and/or multiple genomes has remained a challenging task. We have developed an interactive web-based tool, AVIA (Annotation, Visualization and I...
5 Citations Source Cite
2014 in BMC GenomicsIF: 3.73
Hui Yang1
Estimated H-index: 1
,
Natalia Volfovsky15
Estimated H-index: 15
(Science Applications International Corporation)
+ 3 AuthorsJeffrey N. Strathern36
Estimated H-index: 36
Background Closely spaced long inverted repeats, also known as DNA palindromes, can undergo intrastrand annealing to form DNA hairpins. The ability to form these hairpins results in genome instability, difficulties in maintaining clones in Escherichia coli and major problems for most DNA sequencing approaches. Because of their role in genomic instability and gene amplification in some human cancers, it is important to develop systematic approaches to detect and characterize DNA palindromes.
5 Citations Source Cite
2013 in RetrovirologyIF: 3.42
Wei Shao23
Estimated H-index: 23
(Science Applications International Corporation),
Valerie F. Boltz14
Estimated H-index: 14
+ 8 AuthorsRobert M. Stephens57
Estimated H-index: 57
(Science Applications International Corporation)
Background 454 sequencing technology is a promising approach for characterizing HIV-1 populations and for identifying low frequency mutations. The utility of 454 technology for determining allele frequencies and linkage associations in HIV infected individuals has not been extensively investigated. We evaluated the performance of 454 sequencing for characterizing HIV populations with defined allele frequencies.
73 Citations Source Cite
2013 in Molecular CancerIF: 7.78
Robert S. Hudson8
Estimated H-index: 8
(National Institutes of Health),
Ming Yi34
Estimated H-index: 34
(Science Applications International Corporation)
+ 10 AuthorsRobert M. Stephens57
Estimated H-index: 57
(Science Applications International Corporation)
Background Ultraconserved regions (UCR) are genomic segments of more than 200 base pairs that are evolutionarily conserved among mammalian species. They are thought to have functions as transcriptional enhancers and regulators of alternative splicing. Recently, it was shown that numerous RNAs are transcribed from these regions. These UCR-encoded transcripts (ucRNAs) were found to be expressed in a tissue- and disease-specific manner and may interfere with the function of other RNAs through RNA: ...
34 Citations Source Cite
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