Nature Search

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

MultiSTAAR provides a general and flexible statistical framework for functionally informed multi-trait rare variant analysis of biobank-scale sequencing studies by jointly analyzing multiple traits and incorporating annotation information.

Xihao Li
Han Chen
Xihong Lin
Research07 Feb 2025
Nature Computational Science

Volume: 5, P: 125-143
Positive selection system to screen for inhibitors of human immunodeficiency virus-1 transcription

Merci Del Rosario
James C. Stephans
Klaus Giese
Research01 Nov 1996
Nature Biotechnology

Volume: 14, P: 1592-1596
Site of Catabolism of Serum Albumin

DAVID GITLIN
JAMES R. KLINENBERG
WALTER L. HUGHES
Research12 Apr 1958
Nature

Volume: 181, P: 1064-1065
Multivalent bicyclic peptides are an effective antiviral modality that can potently inhibit SARS-CoV-2

There are currently two types of antiviral drugs – neutralizing antibodies and small molecule inhibitors. Here, the authors report the development of bicyclic peptides that combine the advantages of both and show their antiviral capacity against SARS-CoV-2 in vitro as well as in small animal models.

Katherine U. Gaynor
Marina Vaysburd
Leo C. James
ResearchOpen Access16 Jun 2023
Nature Communications

Volume: 14, P: 1-15
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

STAARpipeline is a comprehensive framework for flexible and scalable rare-variant association analysis using whole-genome sequencing data and annotation information.

Zilin Li
Xihao Li
Xihong Lin
Research27 Oct 2022
Nature Methods

Volume: 19, P: 1599-1611
Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis

Yiping Yang
Frederick A. Nunes
James M. Wilson
Research01 Jul 1994
Nature Genetics

Volume: 7, P: 362-369
Long-term variation in seawater composition at the base of the thermocline

Francis J. Sansone
S. V. Smith
Christine C. Andrews
Research21 Apr 1988
Nature

Volume: 332, P: 714-717
A new class of retinoids with selective inhibition of AP-1 inhibits proliferation

Andrea Fanjul
Marcia I. Dawson
Magnus Pfahl
Research03 Nov 1994
Nature

Volume: 372, P: 107-111
Genome sequencing unveils a regulatory landscape of platelet reactivity

Platelet aggregation is associated with myocardial infarction and stroke. Here, the authors have conducted a whole genome sequencing association study on platelet aggregation, discovering a locus in RGS18, where enhancer assays suggest an effect on activity of haematopoeitic lineage transcription factors.

Ali R. Keramati
Ming-Huei Chen
Andrew D. Johnson
ResearchOpen Access15 Jun 2021
Nature Communications

Volume: 12, P: 1-13
Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Genotype and exome sequencing of 150,000 participants and whole-genome sequencing of 9,950 selected individuals recruited into the Mexico City Prospective Study constitute a valuable, publicly available resource of non-European sequencing data.

Andrey Ziyatdinov
Jason Torres
Roberto Tapia-Conyer
ResearchOpen Access11 Oct 2023
Nature

Volume: 622, P: 784-793
Author Correction: Direct observation of coherent femtosecond solvent reorganization coupled to intramolecular electron transfer

Elisa Biasin
Zachary W. Fox
Munira Khalil
Amendments and Corrections24 Feb 2021
Nature Chemistry

Volume: 14, P: 474
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
Vibronic coherence evolution in multidimensional ultrafast photochemical processes

Energy transfer in light harvesting complexes involves electronic, vibrational, and vibronic couplings which are challenging to resolve. Here the authors observe the time-evolution of vibronic coherences driving charge transfer in a photoexcited solvated transition metal complex by two- and three-dimensional electronic-vibrational spectroscopy.

James D. Gaynor
Jason Sandwisch
Munira Khalil
ResearchOpen Access09 Dec 2019
Nature Communications

Volume: 10, P: 1-9
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

STAAR is a powerful rare variant association test that incorporates variant functional categories and complementary functional annotations using a dynamic weighting scheme based on annotation principal components. STAAR accounts for population structure and relatedness and is scalable for analyzing large whole-genome sequencing studies.

Xihao Li
Zilin Li
Xihong Lin
Research24 Aug 2020
Nature Genetics

Volume: 52, P: 969-983
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

MetaSTAAR enables functionally informed rare variant association analysis in biobank-scale cohorts using an efficient, sparse matrix approach for summary statistic storage.

Xihao Li
Corbin Quick
Xihong Lin
Research23 Dec 2022
Nature Genetics

Volume: 55, P: 154-164
Direct observation of coherent femtosecond solvent reorganization coupled to intramolecular electron transfer

Solvent plays a critical role in electron-transfer reactions, but short-range solvation dynamics are challenging to observe. Now, femtosecond X-ray solution scattering has been used to directly monitor the reorganization of water upon ultrafast intramolecular electron transfer in a bimetallic complex. Coherent motions of the first-shell water molecules are observed, arising from changes in solute–solvent hydrogen bonding.

Elisa Biasin
Zachary W. Fox
Munira Khalil
Research15 Feb 2021
Nature Chemistry

Volume: 13, P: 343-349
Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program

This study of 23,000 non-diabetic individuals highlights loci associated with fasting glucose and fasting insulin in diverse cohorts with whole genome sequence data.

Daniel DiCorpo
Sheila M. Gaynor
Alisa K. Manning
ResearchOpen Access28 Jul 2022
Communications Biology

Volume: 5, P: 1-12
A deep catalogue of protein-coding variation in 983,578 individuals

A dataset of coding variation, derived from exome sequencing of nearly one million individuals from a range of ancestries, provides insight into rare variants and could accelerate the discovery of disease-associated genes and advance precision medicine efforts.

Kathie Y. Sun
Xiaodong Bai
Suganthi Balasubramanian
ResearchOpen Access20 May 2024
Nature

Volume: 631, P: 583-592
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Exome sequencing of 2,871 probands with congenital heart disease (CHD) provides new insights into the genetic architecture of these disorders. The results implicate new genes in CHD pathogenesis and highlight striking overlap between genes with damaging de novo mutations in individuals with CHD and autism.

Sheng Chih Jin
Jason Homsy
Martina Brueckner
Research09 Oct 2017
Nature Genetics

Volume: 49, P: 1593-1601
The effect of 5-fluorouracil and alpha interferon and 5-fluorouracil and leucovorin on cellular anti-tumour immune responses in patients with advanced colorectal cancer

PH Nichols
U Ward
JN Primrose
Research01 Nov 1994
British Journal of Cancer

Volume: 70, P: 946-949
The use of tumour markers CEA, CA-195 and CA-242 in evaluating the response to chemotherapy in patients with advanced colorectal cancer

U Ward
JN Primrose
EH Cooper
Research01 May 1993
British Journal of Cancer

Volume: 67, P: 1132-1135
A transforming mutation in the pleckstrin homology ___domain of AKT1 in cancer

A recurrent mutation found in the akt1 gene has been identified in breast, ovarian and colorectal tumours. The crystal structure of the mutant protein is determined and it is found that the protein displays in increased plasma membrane localization and functions as an oncogene in vitro and in a mouse model for leukaemia.

John D. Carpten
Andrew L. Faber
James E. Thomas
Research04 Jul 2007
Nature

Volume: 448, P: 439-444
Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Andrey Ziyatdinov
Jason Torres
Roberto Tapia-Conyer
Amendments and CorrectionsOpen Access08 Feb 2024
Nature

Volume: 626, P: E18
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals

Kathie Y. Sun
Xiaodong Bai
Suganthi Balasubramanian
Amendments and CorrectionsOpen Access08 Jan 2025
Nature

Volume: 637, P: E26
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors identify a statistically significant enrichment of CNVs impacting metabotropic glutamate receptor genes.

Josephine Elia
Joseph T Glessner
Hakon Hakonarson
Research04 Dec 2011
Nature Genetics

Volume: 44, P: 78-84
The recombination landscape and multiple QTL mapping in a Solanum tuberosum cv. ‘Atlantic’-derived F₁ population

Guilherme da Silva Pereira
Marcelo Mollinari
G. Craig Yencho
ResearchOpen Access22 Mar 2021
Heredity

Volume: 126, P: 817-830
Synthesis of the 3′-thio-nucleosides and subsequent automated synthesis of oligodeoxynucleotides containing a 3′-S-phosphorothiolate linkage

James W Gaynor
Joanne Bentley
Richard Cosstick
Protocols06 Dec 2007
Nature Protocols

Volume: 2, P: 3122-3135
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease

Miller, Hernandez et al. demonstrate a modest genetic contribution to neurodevelopmental and growth outcomes in single ventricle heart disease, and a markedly synergistic effect of genetic, demographic, and clinical variables. This shows the importance of quantifying the impact of genomic variants in the context of conditionally dependent variables.

Thomas A. Miller
Edgar J. Hernandez
Martin Tristani-Firouzi
ResearchOpen Access27 Sept 2023
Communications Medicine

Volume: 3, P: 1-9
Relationship between Duration of Untreated Psychosis and Intrinsic Corticostriatal Connectivity in Patients with Early Phase Schizophrenia

Deepak K Sarpal
Delbert G Robinson
Anil K Malhotra
Research15 Mar 2017
Neuropsychopharmacology

Volume: 42, P: 2214-2221

Search

A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies

Positive selection system to screen for inhibitors of human immunodeficiency virus-1 transcription

Site of Catabolism of Serum Albumin

Multivalent bicyclic peptides are an effective antiviral modality that can potently inhibit SARS-CoV-2

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis

Long-term variation in seawater composition at the base of the thermocline

A new class of retinoids with selective inhibition of AP-1 inhibits proliferation

Genome sequencing unveils a regulatory landscape of platelet reactivity

Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Author Correction: Direct observation of coherent femtosecond solvent reorganization coupled to intramolecular electron transfer

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

Vibronic coherence evolution in multidimensional ultrafast photochemical processes

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

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Direct observation of coherent femtosecond solvent reorganization coupled to intramolecular electron transfer

Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program

A deep catalogue of protein-coding variation in 983,578 individuals

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

The effect of 5-fluorouracil and alpha interferon and 5-fluorouracil and leucovorin on cellular anti-tumour immune responses in patients with advanced colorectal cancer

The use of tumour markers CEA, CA-195 and CA-242 in evaluating the response to chemotherapy in patients with advanced colorectal cancer

A transforming mutation in the pleckstrin homology ___domain of AKT1 in cancer

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

The recombination landscape and multiple QTL mapping in a Solanum tuberosum cv. ‘Atlantic’-derived F₁ population

Synthesis of the 3′-thio-nucleosides and subsequent automated synthesis of oligodeoxynucleotides containing a 3′-S-phosphorothiolate linkage

Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease

Relationship between Duration of Untreated Psychosis and Intrinsic Corticostriatal Connectivity in Patients with Early Phase Schizophrenia

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