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Research

A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci

  • First Published March 24, 2022
Method

Global mapping of RNA homodimers in living cells

  • First Published March 24, 2022
Method

Classification and clustering of RNA crosslink-ligation data reveal complex structures and homodimers

  • First Published March 24, 2022
In memoriam

Haig H. Kazazian, Jr. (1937–2022)

  • First Published March 21, 2022
Method

A general framework for identifying oligogenic combinations of rare variants in complex disorders

  • First Published March 17, 2022
Method

A general calculus of fitness landscapes finds genes under selection in cancers

  • First Published March 17, 2022
Method

Sequencing of individual barcoded cDNAs using Pacific Biosciences and Oxford Nanopore Technologies reveals platform-specific error patterns

  • First Published March 17, 2022
Resource

Klebsiella metabolic models reveals variable substrate usage and gene essentiality" > A curated collection of Klebsiella metabolic models reveals variable substrate usage and gene essentiality

  • First Published March 11, 2022
Research

Genome-wide transcript and protein analysis highlights the role of protein homeostasis in the aging mouse heart

  • First Published March 11, 2022
Research

Paramecium" > GC content, but not nucleosome positioning, directly contributes to intron splicing efficiency in Paramecium

  • First Published March 9, 2022
Research

Paramecium macronuclear genome" > Broad domains of histone marks in the highly compact Paramecium macronuclear genome

  • First Published March 9, 2022
Method

Pan-human consensus genome significantly improves the accuracy of RNA-seq analyses

  • First Published March 7, 2022
Method

An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease–related patterns

  • First Published February 24, 2022
Method

Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing

  • First Published February 24, 2022
Method

Identification of phenotype-specific networks from paired gene expression–cell shape imaging data

  • First Published February 23, 2022
Method

A framework to score the effects of structural variants in health and disease

  • First Published February 23, 2022
Method

Low-input RNase footprinting for simultaneous quantification of cytosolic and mitochondrial translation

  • First Published February 22, 2022
Method

Predicting genotype-specific gene regulatory networks

  • First Published February 22, 2022
Research

Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations

  • First Published February 22, 2022
In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
Research

Somatic structural variant formation is guided by and influences genome architecture

  • First Published February 17, 2022
Research

Accumulation and ineffective silencing of transposable elements on an avian W Chromosome

  • First Published February 11, 2022
Research

Whole-genome resequencing of temporally stratified samples reveals substantial loss of haplotype diversity in the highly inbred Scandinavian wolf population

  • First Published February 8, 2022
Method

NicE-C efficiently reveals open chromatin–associated chromosome interactions at high resolution

  • First Published February 1, 2022
Research

Enhancer–silencer transitions in the human genome

  • First Published February 1, 2022
Research

Genomic context sensitivity of insulator function

  • First Published January 26, 2022
Resource

Girardinichthys multiradiatus, and the evolution of sex chromosomes and placentation" > Genome biology of the darkedged splitfin, Girardinichthys multiradiatus, and the evolution of sex chromosomes and placentation

  • First Published January 26, 2022
Research

Mendelian randomization analyses implicate biogenesis of translation machinery in human aging

  • First Published January 25, 2022
Research

Joint actions of diverse transcription factor families establish neuron-type identities and promote enhancer selectivity

  • First Published January 24, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Resource

Mitochondrial DNA variation across 56,434 individuals in gnomAD

  • First Published January 24, 2022
Research

Plasma cell-free RNA characteristics in COVID-19 patients

  • First Published January 21, 2022
Research

Distal regulation, silencers, and a shared combinatorial syntax are hallmarks of animal embryogenesis

  • First Published January 19, 2022
Method

Domain-adaptive neural networks improve cross-species prediction of transcription factor binding

  • First Published January 18, 2022
Research

Characterization of transcript enrichment and detection bias in single-nucleus RNA-seq for mapping of distinct human adipocyte lineages

  • First Published January 18, 2022
Method

HBB gene region associated with adaptation and genetic disease" > De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease

  • First Published January 14, 2022
Method

Accurate and robust inference of microbial growth dynamics from metagenomic sequencing reveals personalized growth rates

  • First Published January 5, 2022
Resource

Zebrafish transposable elements show extensive diversification in age, genomic distribution, and developmental expression

  • First Published January 5, 2022
Review

Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences

  • First Published December 29, 2021
Method

Antibody-free profiling of transcription factor occupancy during early embryogenesis by FitCUT&RUN

  • First Published December 29, 2021
Resource

Benchmarking small-variant genotyping in polyploids

  • First Published December 29, 2021
Resource

Anopheles coluzzii" > Transposable element variants and their potential adaptive impact in urban populations of the malaria vector Anopheles coluzzii

  • First Published December 29, 2021
Research

Meta-analysis of human and mouse ALS astrocytes reveals multi-omic signatures of inflammatory reactive states

  • First Published December 28, 2021
Research

Low-frequency somatic copy number alterations in normal human lymphocytes revealed by large-scale single-cell whole-genome profiling

  • First Published December 28, 2021
Method

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers

  • First Published December 28, 2021
Research

Genomic environments scale the activities of diverse core promoters

  • First Published December 27, 2021
Research

Gene by environment interaction mouse model reveals a functional role for 5-hydroxymethylcytosine in neurodevelopmental disorders

  • First Published December 23, 2021
Resource

Integration of high-resolution promoter profiling assays reveals novel, cell type–specific transcription start sites across 115 human cell and tissue types

  • First Published December 23, 2021
Research

Limited allele-specific gene expression in highly polyploid sugarcane

  • First Published December 23, 2021
Research

Resetting of the 24-nt siRNA landscape in rice zygotes

  • First Published December 23, 2021
Method

Accessible Region Conformation Capture (ARC-C) gives high-resolution insights into genome architecture and regulation

  • First Published December 21, 2021
Research

Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers

  • First Published December 21, 2021
Research

Long-range promoter–enhancer contacts are conserved during evolution and contribute to gene expression robustness

  • First Published December 20, 2021
Research

Characteristics, origin, and potential for cancer diagnostics of ultrashort plasma cell-free DNA

  • First Published December 20, 2021
Method

A systematic genome-wide account of binding sites for the model transcription factor Gcn4

  • First Published December 16, 2021
Research

Reactivation of transposable elements following hybridization in fission yeast

  • First Published December 14, 2021
Research

Diverse tumorigenic consequences of human papillomavirus integration in primary oropharyngeal cancers

  • First Published December 13, 2021
Method

De novo individualized disease modules reveal the synthetic penetrance of genes and inform personalized treatment regimens

  • First Published December 7, 2021
Resource

RefSeq Functional Elements as experimentally assayed nongenic reference standards and functional interactions in human and mouse

  • First Published December 7, 2021
Reviewer Index

Reviewer Index, Volume 31, 2021

  • First Published December 2, 2021
Method

Comprehensive determination of transcription start sites derived from all RNA polymerases using ReCappable-seq

  • First Published November 23, 2021
Research

Individualized VDJ recombination predisposes the available Ig sequence space

  • First Published November 23, 2021
Method

Genome-wide cancer-specific chromatin accessibility patterns derived from archival processed xenograft tumors

  • First Published November 23, 2021
Research

Human and rat skeletal muscle single-nuclei multi-omic integrative analyses nominate causal cell types, regulatory elements, and SNPs for complex traits

  • First Published November 23, 2021
Research

Brettanomyces bruxellensis yeast species" > Different trajectories of polyploidization shape the genomic landscape of the Brettanomyces bruxellensis yeast species

  • First Published November 23, 2021
Research

Intergenic ORFs as elementary structural modules of de novo gene birth and protein evolution

  • First Published November 22, 2021
Research

Delayed DNA replication in haploid human embryonic stem cells

  • First Published November 22, 2021
Research

Alu insertion variants alter gene transcript levels" > Alu insertion variants alter gene transcript levels

  • First Published November 19, 2021
Research

Epstein–Barr virus nuclear antigen 2 extensively rewires the human chromatin landscape at autoimmune risk loci

  • First Published November 19, 2021
Research

Mediator dynamics during heat shock in budding yeast

  • First Published November 16, 2021
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Research

Rhizophagus irregularis" > Transcriptional activity and epigenetic regulation of transposable elements in the symbiotic fungus Rhizophagus irregularis

  • First Published November 12, 2021
Research

Mutagenesis of human genomes by endogenous mobile elements on a population scale

  • First Published November 12, 2021
Resource

Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions" > Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions

  • First Published November 11, 2021
Research

Chromosome-specific telomere lengths and the minimal functional telomere revealed by nanopore sequencing

  • First Published October 26, 2021
Research

Embryonic LTR retrotransposons supply promoter modules to somatic tissues

  • First Published October 21, 2021
Research

Drosophila" > Shared evolutionary trajectories of three independent neo-sex chromosomes in Drosophila

  • First Published October 21, 2021
Research

Decoding the function of bivalent chromatin in development and cancer

  • First Published October 19, 2021
Method

Effective sequence similarity detection with strobemers

  • First Published October 19, 2021
Method

Global quantification exposes abundant low-level off-target activity by base editors

  • First Published October 19, 2021
Research

Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans

  • First Published October 19, 2021
Research

Cellular abundance shapes function in piRNA-guided genome defense

  • First Published October 19, 2021
Method

Quantifying full-length circular RNAs in cancer

  • First Published October 18, 2021
Research

RBFOX splicing factors contribute to a broad but selective recapitulation of peripheral tissue splicing patterns in the thymus

  • First Published October 14, 2021
Research

Genome-wide oscillations in G + C density and sequence conservation

  • First Published October 14, 2021
Perspective

Advances in spatial transcriptomic data analysis

  • First Published October 1, 2021
Perspective

Applications of single-cell genomics and computational strategies to study common disease and population-level variation

  • First Published October 1, 2021
Perspective

Cancer cell states and emergent properties of the dynamic tumor system

  • First Published October 1, 2021
Editorial

New frontiers in single-cell genomics

  • First Published October 1, 2021
Perspective

Tagmentation-based single-cell genomics

  • First Published October 1, 2021
Resource

A single-cell tumor immune atlas for precision oncology

  • First Published September 21, 2021
Research

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

  • First Published September 20, 2021
Research

Evolutionary rewiring of the wheat transcriptional regulatory network by lineage-specific transposable elements

  • First Published September 9, 2021
Method

Efficient computation of Faith's phylogenetic diversity with applications in characterizing microbiomes

  • First Published September 3, 2021
Method

Cancer-associated dynamics and potential regulators of intronic polyadenylation revealed by IPAFinder using standard RNA-seq data

  • First Published September 2, 2021
Research

Nuclease deficiencies alter plasma cell-free DNA methylation profiles

  • First Published September 1, 2021
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