[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, L Clarke, E Dal, L Ding, S Emery, X Fan, M Gujral… - Nature, 2015 - ncbi.nlm.nih.gov
Summary Structural variants (SVs) are implicated in numerous diseases and make up the
majority of varying nucleotides among human genomes. Here we describe an integrated set
of eight SV classes comprising both balanced and unbalanced variants, which we

[HTML][HTML] Whole-genome sequencing in autism identifies hot spots for de novo germline mutation

JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra… - Cell, 2012 - Elsevier
De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably,
pathogenic copy number variants (CNVs) are characterized by high mutation rates. We
hypothesize that hypermutability is a property of ASD genes and may also include

Camera 2.0: A data-centric metagenomics community infrastructure driven by scientific workflows

…, AW Lin, J Chen, C Churas, M Gujral… - … (SERVICES-1), 2010 …, 2010 - ieeexplore.ieee.org
Abstract: Over the last decade, workflows have been established as a mechanism for
scientific developers to create simplified views of complex scientific processes. However,
there is a need for a comprehensive system architecture to link scientific developers creating

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

…, A Shetty, PA Holmans, D Pinto, M Gujral… - Nature …, 2017 - qmro.qmul.ac.uk
© 2017 Nature America, Inc., part of Springer Nature. All rights reserved. Copy number
variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia
(SCZ). However, genome-wide investigation of the contribution of CNV to risk has been

[HTML][HTML] Frequency and complexity of de novo structural mutation in autism

WM Brandler, D Antaki, M Gujral, A Noor… - The American Journal of …, 2016 - Elsevier
Genetic studies of autism spectrum disorder (ASD) have established that de novo
duplications and deletions contribute to risk. However, ascertainment of structural variants
(SVs) has been restricted by the coarse resolution of current approaches. By applying a

Extending the data model for data-centric metagenomics analysis using scientific workflows in camera

…, A Gupta, S Sun, AW Lin, M Gujral… - … , 2010 Sixth IEEE …, 2010 - ieeexplore.ieee.org
Abstract: Community Cyber infrastructure for Advanced Marine Microbial Ecology Research
and Analysis (CAMERA) is an eScience project to enable the microbial ecology community
in managing the challenges of metagenomics analysis. CAMERA supports extensive

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

…, D Antaki, A Shetty, P Holmans, D Pinto, M Gujral… - bioRxiv, 2016 - biorxiv.org
Genomic copy number variants (CNVs) have been strongly implicated in the etiology of
schizophrenia (SCZ). However, apart from a small number of risk variants, elucidation of the
CNV contribution to risk has been difficult due to the rarity of risk alleles, all occurring in less

Paternally inherited noncoding structural variants contribute to autism

WM Brandler, D Antaki, M Gujral, ML Kleiber, MS Maile… - bioRxiv, 2017 - biorxiv.org
The genetic architecture of autism spectrum disorder (ASD) is known to consist of
contributions from gene-disrupting de novo mutations and common variants of modest effect.
We hypothesize that the unexplained heritability of ASD also includes rare inherited variants

Case Study on the Use of REST Architectural Principles for Scientific Analysis: CAMERA–Community Cyberinfrastructure for Advanced Microbial Ecology Research …

AW Lin, I Altintas, C Churas, M Gujral, J Grethe… - REST: From Research to …, 2011 - Springer
Abstract The advent of Grid (and by extension Cloud) Computing along with Service
Orientated Architecture (SOA) principles have lead to a fundamental shift in the development
of end-user application environments. In the scientific domain, this loosely coupled, multi-

Multi-platform discovery of haplotype-resolved structural variation in human genomes

…, A Farrell, J Flores, T Galeev, G David, M Gujral… - bioRxiv, 2017 - biorxiv.org
The incomplete identification of structural variants from whole-genome sequencing data
limits studies of human genetic diversity and disease association. Here, we apply a suite of
long-and short-read, strand-specific sequencing technologies, optical mapping, and variant