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Research

Linking FANTOM5 CAGE peaks to annotations with CAGEscan

Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources

Research

Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsin

Identified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia

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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli

We obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time

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Transcribed enhancers lead waves of coordinated transcription in transitioning mammalian cells

Our data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during...

Research

Application of Gene Expression Trajectories Initiated from ErbB Receptor Activation Highlights the Dynamics of Divergent Promoter Usage

This study helps us understand how cancer cells are regulated by key genes and their corresponding networks to alter their fate in response to specific...

Research

Electrostatic Filters to Reduce COVID-19 Spread in Bubble CPAP: An in vitro Study of Safety and Efficacy

Bubble CPAP may be used in infants with suspected or confirmed COVID-19. Electrostatic filters may reduce cross infection. This study aims to determine if including a filter in the bubble CPAP circuit impacts stability of pressure delivery. A new electrostatic filter was placed before (pre) or after (post) the bubble CPAP generator, or with no filter (control) in an in vitro study. Pressure was recorded at the nasal interface for 18 h (6 L/min; 7 cm H2O) on 3 occasions for each configuration. Filter failure was defined as pressure >9 cm H2O for 60 continuous minutes. The filter was weighed before and after each experiment.

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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

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Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues

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Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironment

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained