Emily Tsang

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Accurate prediction of the functional effect of genetic variation is critical for clinical genome interpretation. We systematically characterized the transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects. We(More)
—The paper tackles the problem of designing intuitive graphical interfaces for selecting navigational targets for an autonomous robot. Our work focuses on the design and validation of such a flexible interface for an intelligent wheelchair navigating in a large indoor environment. We begin by describing the robot platform and interface design. We then(More)
Genomic imprinting is an epigenetic process that restricts gene expression to either the maternally or paternally inherited allele. Many theories have been proposed to explain its evolutionary origin, but understanding has been limited by a paucity of data mapping the breadth and dynamics of imprinting within any organism. We generated an atlas of(More)
Boolean implications (if-then rules) provide a conceptually simple, uniform and highly scalable way to find associations between pairs of random variables. In this paper, we propose to use Boolean implications to find relationships between variables of different data types (mutation, copy number alteration, DNA methylation and gene expression) from the(More)
17 Rare genetic variants are abundant in humans yet their functional effects are often unknown and 18 challenging to predict. The Genotype-Tissue Expression (GTEx) project provides a unique opportunity to 19 identify the functional impact of rare variants through combined analyses of whole genomes and multi-20 tissue RNA-sequencing data. Here, we identify(More)
  • Citation Sinha, Emily K Subarna, Haoyang Tsang, Michela Zeng, David L Meister, Vladimir B Dill +8 others
  • 2014
The MIT Faculty has made this article openly available. Please share how this access benefits you. Your story matters. Abstract Boolean implications (if-then rules) provide a conceptually simple, uniform and highly scalable way to find associations between pairs of random variables. In this paper, we propose to use Boolean implications to find relationships(More)
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