Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer, +53

Nature

Human VariationGeneticsGenomicsTranscriptomicsMedicine +2

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas, Matti Pirinen, Donald F. Conrad, +194

Science

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

Peter A.C. ’t Hoen, Marc R. Friedländer, Jonas Carlsson Almlöf, +14

Nature Biotechnology

BioinformaticsLong-read SequencingFunctional GenomicsEngineeringNext-generation Sequencing +12

Unique transcriptome signatures and GM-CSF expression in lymphocytes from patients with spondyloarthritis

Hussein Al‐Mossawi, L. Chen, Hai Fang, +15

Nature Communications

Tumor cell migration screen identifies SRPK1 as breast cancer metastasis determinant

Wies van Roosmalen, Sylvia E. Le Dévédec, Ofra Golani, +15

Journal of Clinical Investigation

Non-sequential and multi-step splicing of the dystrophin transcript

Isabella Gazzoli, Irina Pulyakhina, Nisha Verwey, +4

RNA Biology

GeneticsRna SplicingMolecular BiologyTranscriptomics TechnologyGenomics +14

miR-10b-5p is a novel Th17 regulator present in Th17 cells from ankylosing spondylitis

L Chen, Hussein Al‐Mossawi, Anne J. Ridley, +10

Annals of the Rheumatic Diseases

Annotating Transcriptional Effects of Genetic Variants in Disease‐Relevant Tissue: Transcriptome‐Wide Allelic Imbalance in Osteoarthritic Cartilage

Wouter den Hollander, Irina Pulyakhina, Cindy G. Boer, +13

Arthritis & Rheumatology

Determining the quality and complexity of next-generation sequencing data without a reference genome

Seyed Yahya Anvar, Lusine Khachatryan, Martijn Vermaat, +8

Genome biology

GeneticsOpen-source Kpal PackageGenomicsSequence AlignmentMicrobial Evolution +24

SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing

Irina Pulyakhina, Isabella Gazzoli, Peter A.C. ’t Hoen, +4

Nucleic Acids Research

EngineeringGeneticsRna SplicingMolecular BiologyTranscriptomics Technology +19