A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

Daniel G. MacArthur, Suganthi Balasubramanian, Adam Frankish, +48

Science

Cross-tissue immune cell analysis reveals tissue-specific features in humans

Cecilia Domínguez Conde, Chuan Xu, Lorna B. Jarvis, +37

Science

Tissue-specific FeaturesEngineeringLaboratory ImmunologyImmunologyPathology +17

SARS-CoV-2 infection of the oral cavity and saliva

Ni Huang, Paola Pérez, Takafumi Kato, +81

Nature Medicine

Single-cell multi-omics analysis of the immune response in COVID-19

Emily Stephenson, Gary Reynolds, Rachel A. Botting, +65

Nature Medicine

Characterising and Predicting Haploinsufficiency in the Human Genome

Ni Huang, Insuk Lee, Edward M. Marcotte, +1

PLoS Genetics

GeneticsGenetic EpidemiologyGene CharacterizationDisease Gene IdentificationGenomics +18

Dynamic landscape and regulation of RNA editing in mammals

Meng How Tan, Qin Li, Raghuvaran Shanmugam, +26

Nature

Systems BiologyGene ExpressionMedicineEpigeneticsGenome Editing +2

An integrated cell atlas of the lung in health and disease

Lisa Sikkema, Ciro Ramírez-Suástegui, Daniel Strobl, +94

Nature Medicine

Cells of the human intestinal tract mapped across space and time

Rasa Elmentaite, Natsuhiko Kumasaka, Kenny Roberts, +40

Nature

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel, +19

Nature

Mendelian DisorderMedicineGenetic EpidemiologyComplex DiseasePublic Health Genetics +7

Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia M. Keogh, +9

Nature

ObesityMetabolic SyndromeMetabolic DisorderGeneticsPathology +2