Tximeta: Reference sequence checksums for provenance identification in RNA-seq

MI Love, C Soneson, PF Hickey… - PLoS computational …, 2020 - journals.plos.org
Correct annotation metadata is critical for reproducible and accurate RNA-seq analysis.
When files are shared publicly or among collaborators with incorrect or missing annotation …

Alignment and mapping methodology influence transcript abundance estimation

A Srivastava, L Malik, H Sarkar, M Zakeri, F Almodaresi… - Genome biology, 2020 - Springer
Background The accuracy of transcript quantification using RNA-seq data depends on many
factors, such as the choice of alignment or mapping method and the quantification model …

From biomedical cloud platforms to microservices: Next steps in FAIR data and analysis

NC Sheffield, VR Bonazzi, PE Bourne, T Burdett… - Scientific Data, 2022 - nature.com
The biomedical research community is investing heavily in biomedical cloud platforms.
Cloud computing holds great promise for addressing challenges with big data and ensuring …

[PDF][PDF] PEPATAC: an optimized pipeline for ATAC-seq data analysis with serial alignments

JP Smith, MR Corces, J Xu, VP Reuter… - NAR genomics and …, 2021 - academic.oup.com
As chromatin accessibility data from ATAC-seq experiments continues to expand, there is
continuing need for standardized analysis pipelines. Here, we present PEPATAC, an ATAC …

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

R Bhattacharjee, LA Jolly, MA Corbett, IC Wee… - Nature …, 2024 - nature.com
We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the
highly-conserved TREX (Tr anscription-Ex port) complex, in a clinically complex …

LimoRhyde2: genomic analysis of biological rhythms based on effect sizes

D Obodo, EH Outland, JJ Hughey - PLoS One, 2023 - journals.plos.org
Genome-scale data have revealed daily rhythms in various species and tissues. However,
current methods to assess rhythmicity largely restrict their focus to quantifying statistical …

[HTML][HTML] CHOIR improves significance-based detection of cell types and states from single-cell data

C Petersen, L Mucke, MR Corces - Biorxiv, 2024 - ncbi.nlm.nih.gov
Clustering is a critical step in the analysis of single-cell data, as it enables the discovery and
characterization of putative cell types and states. However, most popular clustering tools do …

PEPPRO: quality control and processing of nascent RNA profiling data

JP Smith, AB Dutta, KM Sathyan, MJ Guertin… - Genome Biology, 2021 - Springer
Nascent RNA profiling is growing in popularity; however, there is no standard analysis
pipeline to uniformly process the data and assess quality. Here, we introduce PEPPRO, a …

Patient-derived gene and protein expression signatures of NGLY1 deficiency

B Rauscher, WF Mueller… - The Journal of …, 2022 - academic.oup.com
Abstract N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder.
Although recent studies have shed light on the molecular underpinnings of NGLY1 …

Globally elevated levels of histone H3 lysine 9 trimethylation in early infancy are associated with poor growth trajectory in Bangladeshi children

K Kupkova, SJ Shetty, MG Pray-Grant, PA Grant… - Clinical …, 2023 - Springer
Background Stunting is a global health problem affecting hundreds of millions of children
worldwide and contributing to 45% of deaths in children under the age of five. Current …