From reads to insight: a hitchhiker's guide to ATAC-seq data analysis

F Yan, DR Powell, DJ Curtis, NC Wong - Genome biology, 2020 - Springer
Abstract Assay of Transposase Accessible Chromatin sequencing (ATAC-seq) is widely
used in studying chromatin biology, but a comprehensive review of the analysis tools has …

Towards a comprehensive catalogue of validated and target-linked human enhancers

M Gasperini, JM Tome, J Shendure - Nature Reviews Genetics, 2020 - nature.com
The human gene catalogue is essentially complete, but we lack an equivalently vetted
inventory of bona fide human enhancers. Hundreds of thousands of candidate enhancers …

PlantRegMap: charting functional regulatory maps in plants

F Tian, DC Yang, YQ Meng, J Jin… - Nucleic acids research, 2020 - academic.oup.com
With the goal of charting plant transcriptional regulatory maps (ie transcription factors (TFs),
cis-elements and interactions between them), we have upgraded the TF-centred database …

dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs

X Liu, C Li, C Mou, Y Dong, Y Tu - Genome medicine, 2020 - Springer
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …

Prostate cancer reactivates developmental epigenomic programs during metastatic progression

MM Pomerantz, X Qiu, Y Zhu, DY Takeda, W Pan… - Nature …, 2020 - nature.com
Epigenetic processes govern prostate cancer (PCa) biology, as evidenced by the
dependency of PCa cells on the androgen receptor (AR), a prostate master transcription …

WormBase: a modern model organism information resource

TW Harris, V Arnaboldi, S Cain, J Chan… - Nucleic acids …, 2020 - academic.oup.com
Abstract WormBase (https://wormbase. org/) is a mature Model Organism Information
Resource supporting researchers using the nematode Caenorhabditis elegans as a model …

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

X Li, Z Li, H Zhou, SM Gaynor, Y Liu, H Chen, R Sun… - Nature …, 2020 - nature.com
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …

Therapeutic base editing of human hematopoietic stem cells

J Zeng, Y Wu, C Ren, J Bonanno, AH Shen, D Shea… - Nature Medicine, 2020 - nature.com
Base editing by nucleotide deaminases linked to programmable DNA-binding proteins
represents a promising approach to permanently remedy blood disorders, although its …

Mapping and characterization of structural variation in 17,795 human genomes

HJ Abel, DE Larson, AA Regier, C Chiang, I Das… - Nature, 2020 - nature.com
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Purging of highly deleterious mutations through severe bottlenecks in Alpine ibex

C Grossen, F Guillaume, LF Keller, D Croll - Nature communications, 2020 - nature.com
Human activity has caused dramatic population declines in many wild species. The resulting
bottlenecks have a profound impact on the genetic makeup of a species with unknown …