Nature Search

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion

The authors resolve 63 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched for inverted repeats that predispose to inversion.

David Porubsky
DongAhn Yoo
Evan E. Eichler
ResearchOpen Access18 Apr 2026
Nature Communications

Volume: 17, P: 1-18
Mutational profiling of SARS-CoV-2 papain-like protease reveals requirements for function, structure, and drug escape

Analysis of over 6000 single-site variants of SARS-CoV-2 Papain-Like protease uncovers critical mutations involved in enzymatic function and highlight the potential for drug-escape.

Xinyu Wu
Margareta Go
Melissa J. Call
ResearchOpen Access23 Jul 2024
Nature Communications

Volume: 15, P: 1-18
Using the linear references from the pangenome to discover missing autism variants

Large-effect variants in autism remain elusive. Here, the authors use long-read sequencing to assemble phased genomes for 189 individuals, identifying pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, plus nine candidate structural variants missed by short-read methods.

Yang Sui
Jiadong Lin
Evan E. Eichler
ResearchOpen Access23 Jan 2026
Nature Communications

Volume: 17, P: 1-16
Germline polymorphisms in the immunoglobulin kappa and lambda loci underpinning antibody light chain repertoire variability

Antibody response variability contributes to differential individual responses and disease outcomes. Here authors show that genetic variation to the IG kappa and IG lambda loci is an important determinant of antibody-mediated host responses in humans.

Eric Engelbrecht
Oscar L. Rodriguez
Corey T. Watson
ResearchOpen Access28 Nov 2025
Nature Communications

Volume: 16, P: 1-16
Vaccination induces broadly neutralizing antibody precursors to HIV gp41

Schief and colleagues show that germline-targeting epitope scaffolds can elicit responses from rare broadly neutralizing antibody precursor B cells with predefined binding specificities and genetic features.

Torben Schiffner
Ivy Phung
William R. Schief
ResearchOpen Access30 May 2024
Nature Immunology

Volume: 25, P: 1073-1082
Vaccination with a replication-defective cytomegalovirus vaccine elicits a glycoprotein B-specific monoclonal antibody repertoire distinct from natural infection

Sarah M. Valencia
Eric Rochat
Sallie R. Permar
ResearchOpen Access10 Oct 2023
npj Vaccines

Volume: 8, P: 1-8
High speed direct imaging of thin metal film ablation by movie-mode dynamic transmission electron microscopy

Sahar Hihath
Melissa K. Santala
Klaus van Benthem
ResearchOpen Access11 Mar 2016
Scientific Reports

Volume: 6, P: 1-7
Genetic variation in the immunoglobulin heavy chain locus shapes the human antibody repertoire

Haplotype diversity in the human immunoglobulin heavy chain (IGH) locus is poorly characterized. Here, the authors use long-read sequencing to discover extensive IGH diversity and link germline variants to variation in the antibody repertoire.

Oscar L. Rodriguez
Yana Safonova
Corey T. Watson
ResearchOpen Access21 Jul 2023
Nature Communications

Volume: 14, P: 1-18
Antibody decay, T cell immunity and breakthrough infections following two SARS-CoV-2 vaccine doses in inflammatory bowel disease patients treated with infliximab and vedolizumab

Vaccination is effective in protecting from COVID-19. Here the authors report immune responses and breakthrough infections in twice-vaccinated patients receiving anti-TNF treatments for inflammatory bowel disease, and find dampened vaccine responses that implicate the need of adapted vaccination schedules for these patients.

Simeng Lin
Nicholas A. Kennedy
Jeannie Bishop
ResearchOpen Access16 Mar 2022
Nature Communications

Volume: 13, P: 1-14
Desynchronizing the sleep–wake cycle from circadian timing to assess their separate contributions to physiology and behaviour and to estimate intrinsic circadian period

This protocol describes how to design, implement and analyze the data from a forced desynchrony protocol to assess endogenous circadian rhythmicity and to separate circadian from evoked components of daily rhythms in physiology and behavior.

Wei Wang
Robin K. Yuan
Charles A. Czeisler
Protocols14 Nov 2022
Nature Protocols

Volume: 18, P: 579-603
Author Correction: Vaccination induces broadly neutralizing antibody precursors to HIV gp41

Torben Schiffner
Ivy Phung
William R. Schief
Amendments and CorrectionsOpen Access14 Jun 2024
Nature Immunology

Volume: 25, P: 1307
A second update on mapping the human genetic architecture of COVID-19

Masahiro Kanai
Shea J. Andrews
Matthew Solomonson
ResearchOpen Access06 Sept 2023
Nature

Volume: 621, P: E7-E26
Activity-based protein profiling for biochemical pathway discovery in cancer

This Review focuses on activity-based protein profiling, which enables the discovery of cancer-relevant enzymes and selective pharmacological probes to perturb and characterize these proteins in tumour cells. When ABPP is integrated with other large-scale profiling methods, it can provide insight into the metabolic and signalling pathways that support cancer pathogenesis and indicate new strategies for treatment.

Daniel K. Nomura
Melissa M. Dix
Benjamin F. Cravatt
Reviews12 Aug 2010
Nature Reviews Cancer

Volume: 10, P: 630-638
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

The International Multiple Sclerosis Genetics Consortium reports the discovery of 48 new susceptibility variants for multiple sclerosis through targeted follow-up of immune-related loci. They also report fine mapping of association signals at established susceptibility loci and provide insights into the immune system processes underlying this disease.

Ashley H Beecham
Nikolaos A Patsopoulos
Jacob L McCauley
Research29 Sept 2013
Nature Genetics

Volume: 45, P: 1353-1360
Solid-state nanopore fabrication by automated controlled breakdown

This Protocol describes a low-cost and scalable solid-state nanopore fabrication method, termed controlled breakdown (CBD), for fabricating solid-state nanopores.

Matthew Waugh
Kyle Briggs
Vincent Tabard-Cossa
Protocols13 Dec 2019
Nature Protocols

Volume: 15, P: 122-143
Energetic eruptions leading to a peculiar hydrogen-rich explosion of a massive star

Observations of an event (several energetic eruptions leading to a terminal explosion that is surprisingly hydrogen-rich) with the spectrum of a supernova do not match with other observations of supernovae.

Iair Arcavi
D. Andrew Howell
Brian Bue
Research09 Nov 2017
Nature

Volume: 551, P: 210-213
Structural and biochemical investigations of a HEAT-repeat protein involved in the cytosolic iron-sulfur cluster assembly pathway

Structural and biochemical studies of Met18, a CIA Pathway heat repeat protein, show that Met18 forms different oligomers, has a flexible N-terminus that binds client protein Leu1, and a C-terminus that binds CIA protein Cia2.

Sheena Vasquez
Melissa D. Marquez
Catherine L. Drennan
ResearchOpen Access18 Dec 2023
Communications Biology

Volume: 6, P: 1-12
Influence of gender on clinical presentation, management practices and outcomes of ocular syphilis

Melissa K. Shields
Tiago E. Arantes
Justine R. Smith
ResearchOpen Access16 Jul 2024
Scientific Reports

Volume: 14, P: 1-8
Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation

William S. Gibson
Oscar L. Rodriguez
Corey T. Watson
Research21 Dec 2022
Genes & Immunity

Volume: 24, P: 21-31
Local environment drives rapid shifts in composition and phylogenetic clustering of seagrass microbiomes

Melissa R. Kardish
John. J. Stachowicz
ResearchOpen Access04 Mar 2023
Scientific Reports

Volume: 13, P: 1-14
Predictors of short-term anxiety outcome in subthalamic stimulation for Parkinson’s disease

Anna Sauerbier
Johanna Herberg
Richard Walker
ResearchOpen Access08 Jun 2024
npj Parkinson's Disease

Volume: 10, P: 1-9
Non-motor predictors of 36-month quality of life after subthalamic stimulation in Parkinson disease

Stefanie T. Jost
Veerle Visser-Vandewalle
Richard Walker
ResearchOpen Access08 Jun 2021
npj Parkinson's Disease

Volume: 7, P: 1-7
One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp
Mary E. Koziura
Jimann Shin
Comments & Opinion06 Jul 2021
Genetics in Medicine

Volume: 23, P: 1830-1832

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