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Open AccessJournal ArticleDOI

A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles.

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TLDR
The expanded CMap is reported, made possible by a new, low-cost, high-throughput reduced representation expression profiling method that is shown to be highly reproducible, comparable to RNA sequencing, and suitable for computational inference of the expression levels of 81% of non-measured transcripts.
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This article is published in Cell.The article was published on 2017-11-30 and is currently open access. It has received 1943 citations till now.

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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

Phuwanat Sakornsakolpat, +155 more
TL;DR: Genome-wide analysis of chronic obstructive pulmonary disease identifies 82 loci, 35 of which are new, and integrates gene expression and genomic annotation data shows enrichment of signals in lung tissue, smooth muscle and several lung cell types.
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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

TL;DR: Genetic and transcriptional consequences of Cas9 expression induces DNA damage and activates the p53 pathway, and it can lead to the selection of cells with p53-inactivating mutations, and Cas9 is less active in wild-type TP53 cell lines than in TP53- mutant cell lines.
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Evaluation of RNAi and CRISPR technologies by large-scale gene expression profiling in the Connectivity Map.

TL;DR: This work shows that mitigating off-target effects is feasible in these datasets via computational methodologies to produce a consensus gene signature (CGS) and compared RNAi technology to clustered regularly interspaced short palindromic repeat (CRISPR)-based knockout by analysis of 373 single guide RNAs (sgRNAs) to show that the on-target efficacies are comparable, but CRISPR technology is far less susceptible to systematic off- target effects.
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Integrated Proteogenomic Characterization across Major Histological Types of Pediatric Brain Cancer

Francesca Petralia, +148 more
- 23 Dec 2020 - 
TL;DR: This is the first large-scale proteogenomics analysis across traditional histological boundaries to uncover foundational pediatric brain tumor biology and inform rational treatment selection.
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Trans effects on gene expression can drive omnigenic inheritance

TL;DR: This work provides a formal model in which genetic contributions to complex traits can be partitioned into direct effects from core genes, and indirect effects from peripheral genes acting as trans-regulators, and proposes a framework for understanding key features of the architecture of complex traits.
References
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Journal Article

Visualizing Data using t-SNE

TL;DR: A new technique called t-SNE that visualizes high-dimensional data by giving each datapoint a location in a two or three-dimensional map, a variation of Stochastic Neighbor Embedding that is much easier to optimize, and produces significantly better visualizations by reducing the tendency to crowd points together in the center of the map.
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Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

TL;DR: The Gene Expression Omnibus (GEO) project was initiated in response to the growing demand for a public repository for high-throughput gene expression data and provides a flexible and open design that facilitates submission, storage and retrieval of heterogeneous data sets from high-power gene expression and genomic hybridization experiments.
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BLAT—The BLAST-Like Alignment Tool

TL;DR: How BLAT was optimized is described, which is more accurate and 500 times faster than popular existing tools for mRNA/DNA alignments and 50 times faster for protein alignments at sensitivity settings typically used when comparing vertebrate sequences.
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Adjusting batch effects in microarray expression data using empirical Bayes methods

TL;DR: This paper proposed parametric and non-parametric empirical Bayes frameworks for adjusting data for batch effects that is robust to outliers in small sample sizes and performs comparable to existing methods for large samples.
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