Nature Genetics @NatureGenet Twitter profile

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Nature Genetics

@NatureGenet

1 year

‼️ JUST PUBLISHED @NatureGenet 📰 Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens 🧑🏿‍🤝‍🧑🏿 @elhamazizi Ben Izar and team 👇🏼

Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens

Nature Genetics - High-quality multimodal single-cell, bulk and spatial genomics data are prepared from low-input, frozen needle biopsy specimens collected during routine clinical procedures.

www.nature.com

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3 years

Remembering José Luis Gómez-Skarmeta @jlgomska , by @bogdanoviclab and @mirimiam

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2 years

📢 @NatureGenet has a new Chief Editor: Tiago Faial. He's been at the journal since 2015 and will be a familiar face to many of our authors. We wish our previous Chief Editor, Catherine Potenski, the very best in her new role. We're deeply thankful for her inspiring leadership. 👏

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3 years

🔥HOT OFF THE PRESS @NatureGenet by @anshulkundaje Michael C. Bassik and colleagues: 🧬A genome-wide atlas of co-essential modules assigns function to uncharacterized genes |

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6 years

Distinguishing genetic correlation from causation across 52 diseases and complex traits

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4 years

Huge congratulations to Emmanuelle Charpentier and Jennifer Doudna for the #NobelPrizeinChemistry for #CRISPRCas9

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3 years

Online @nature : Progressive Cactus is a multiple-genome aligner for the thousand-genome era

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4 years

Online @nature : Whole-genome sequencing of patients with rare diseases in a national health system

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3 years

Online @nature : Genome-wide enhancer maps link risk variants to disease genes

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3 years

OUT NOW @NatureGenet Going home: the challenges and rewards of genetics research in Mexico 🇲🇽 A World View article by @daniela_oaks about setting up her cancer #genomics research lab in Mexico after training in the UK. 👉

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4 years

New review article in @nature A brief history of human disease genetics. Wonderful summary of the field!

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5 years

Highly rearranged chromosomes reveal uncoupling between genome topology and gene expression (Ghavi-Helm et al.)

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2 years

💫 OUT NOW @NatureGenet 📰 Deep learning of cross-species single-cell landscapes identifies conserved regulatory programs underlying cell types 🧑‍🤝‍🧑 Guoji Guo, Jingjing Wang and team ⬇️

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2 years

Out now! Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes (Ebler et al.)

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3 years

Online @nature : Systematic analysis of binding of transcription factors to noncoding variants

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4 years

Online @nature : Population genomics of the Viking world

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3 years

🔥New content from @NatureGenet from David Pellman, Mitchell J. Weiss and colleagues: 🚨Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing | 👉

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4 years

Online @NatureRevGenet : Structural variation in the sequencing era

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4 years

Online @nature The water lily genome and the early evolution of flowering plants

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3 years

Online @nature : A metastasis map of human cancer cell lines

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2 years

🎂 Gregor Mendel was born 2⃣0⃣0⃣ years ago today! 🧬 To mark the occasion, @NatureRevGenet @NatureGenet @NatureEcoEvo present a Nature Collection of articles that looks back on the early days of genetics and towards the future of our wonderful field🎉 ⬇️

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6 years

Adaptation and conservation insights from the koala genome (Johnson et al.) #OA #koala

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3 years

Functional and structural basis of extreme conservation in vertebrate 5′ untranslated regions (Byeon et al.)

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3 years

🤩ONLINE NOW Single-cell transcriptomic analyses provide insights into the developmental origins of neuroblastoma |

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6 years

Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation (Gamazon, Segrè et al.)

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5 years

Online @nature The Integrative Human Microbiome Project

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2 years

DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers (de Almeida et al.) @deAlmeida_BP @reiterfanny @AlexanderStark8

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5 years

Interrogation of human hematopoiesis at single-cell and single-variant resolution (Ulirsch et al.)

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3 years

😍ONLINE NOW @NatureGenet by @dralexswarbrick and colleagues @GarvanInstitute 🔥A single-cell and spatially resolved atlas of human breast cancers ➡️ @NatResCancer #breastcancer

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3 years

Differences between germline genomes of monozygotic twins (Jonsson et al.)

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6 years

Online @nature In vivo CRISPR editing with no detectable genome-wide off-target mutations

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2 years

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function (Hawe et al.)

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4 years

Out now @Nature High-depth African genomes inform human migration and health

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3 years

Online now from @arjunrajlab @jiejie_stella and colleagues: Genetic screening for single-cell variability modulators driving therapy resistance |

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3 years

Online @nature : Somatic mutation landscapes at single-molecule resolution

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5 years

Online @nature Transcriptome-wide off-target RNA editing induced by CRISPR-guided DNA base editors

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5 years

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions (Urbut et al.)

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5 years

Online @nature Pan-cancer whole-genome analyses of metastatic solid tumours

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3 years

Online @nature : Integrated spatial genomics reveals global architecture of single nuclei

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2 years

Online @Nature : A chickpea genetic variation map based on the sequencing of 3,366 genomes

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2 years

✨ PUBLISHED TODAY @NatureGenet 📰 Histone editing elucidates the functional roles of H3K27 methylation and acetylation in mammals 🧑🏿‍🤝‍🧑🏻 @helin_kristian and colleagues ⬇️

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2 years

‼️ ONLINE NOW @NatureGenet 📰 A sequence-based global map of regulatory activity for deciphering human genetics 🧑🏿‍🤝‍🧑🏻 @zhou_jian @OlgaTroyanskaya and team 👇🏻

A sequence-based global map of regulatory activity for deciphering human genetics

Nature Genetics - Sei is a new framework for integrating human genetics data with a sequence-based mapping of predicted regulatory activities to elucidate mechanisms contributing to complex traits...

www.nature.com

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3 years

⚡️ONLINE RIGHT NOW @NatureGenet : Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits | 🧬

Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in...

Nature Genetics - Analysis of long-read sequencing data from 3,622 Icelanders identifies a set of high-confidence structural variants and provides insights into their effect on human traits and...

www.nature.com

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3 years

Online today @NatureGenet Insights into the genetic architecture of the human face

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5 years

Single-cell and single-molecule epigenomics to uncover genome regulation at unprecedented resolution (Shema, Bernstein and Buenrostro)

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5 years

High-resolution genetic mapping of putative causal interactions between regions of open chromatin (Kumasaka et al.)

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1 year

🕺🏿 OUT TODAY @NatureGenet 📰 Enhancer–promoter interactions and transcription are largely maintained upon acute loss of CTCF, cohesin, WAPL or YY1 🧑🏿‍🤝‍🧑🏼 @XDarzacq Robert Tjian, and team 👇

Enhancer–promoter interactions and transcription are largely maintained upon acute loss of CTCF,...

Nature Genetics - Micro-C and nascent transcript profiling in mouse embryonic stem cells shows that enhancer–promoter interactions are robust to acute depletion of CTCF, cohesin, WAPL or YY1....

www.nature.com

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6 years

Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors (Miao et al.)

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5 years

Fast and accurate genomic analyses using genome graphs (Rakocevic et al.)

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5 years

A compendium of promoter-centered long-range chromatin interactions in the human genome (Jung et al.)

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4 years

Alteration of genome folding via contact domain boundary insertion (Zhang et al.)

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2 years

Online now: Large uncertainty in individual polygenic risk score estimation impacts PRS-based risk stratification (Ding et al.)

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3 years

🔥Out today from Joseph Loscalzo and colleagues: Comprehensive characterization of protein–protein interactions perturbed by disease mutations |

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2 years

😍 OUT TODAY @NatureGenet 📰 Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation 🧑🏿‍🤝‍🧑🏽 @eddiecg @BlagojeSoskic @GosiaTrynka and team 👇🏿

Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation

Nature Genetics - Single-cell RNA sequencing of CD4+ naive and memory T cells from 119 individuals generates an expression quantitative trait locus (eQTL) map during T cell activation, identifying...

www.nature.com

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2 years

🤩ONLINE NOW @NatureGenet from @roserventotormo and team: 🗺️Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro ➡️ #WomensHealth @sangerinstitute

Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro

Nature Genetics - Single-cell and spatial transcriptomic profiling of the human endometrium highlights pathways governing the proliferative and secretory phases of the menstrual cycle. Analyses of...

www.nature.com

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3 years

A first-generation pediatric cancer dependency map (Dharia et al.)

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6 years

The human noncoding genome defined by genetic diversity (di Iulio et al.)

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6 years

CRISPR–Cas9 genome editing in human cells occurs via the Fanconi anemia pathway (Richardson et al.) . and video:

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5 years

Online @nature The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

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3 years

Online @nature : Transcriptome and translatome co-evolution in mammals

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5 years

Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk (Zhou et al.)

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6 years

Predicting the clinical impact of human mutation with deep neural networks (Sundaram et al.)

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5 years

The tomato pan-genome uncovers new genes and a rare allele regulating fruit flavor (Gao et al.)

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7 years

Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease

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3 years

Online @Nature : Rare variant contribution to human disease in 281,104 UK Biobank exomes

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2 years

📢 OUT TODAY @NatureGenet 📰 Sequence determinants of human gene regulatory elements 🧑🏾‍🤝‍🧑🏼 Jussi Taipale @Sahu_B and colleagues 🔗👇🏾🔗

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10 months

🔊 ONLINE @NatureGenet 📰 Mapping interindividual dynamics of innate immune response at single-cell resolution 🧑🏿‍🤝‍🧑🏽 Sarah A. Teichmann Tzachi Hagai @natsuhiko83 and colleagues 👇🏽

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4 years

Transcription imparts architecture, function and logic to enhancer units (Tippens et al.)

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4 years

An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer’s disease (Nativio et al.)

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3 years

Read the Milestones in Genomic Sequencing collection, highlighting advances in DNA sequencing technology in the 21st century @NatureRevGenet @nature

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7 years

Reconstructing the #genome of the most recent common ancestor of flowering plants (Murat et al) #SharedIt

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4 years

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases.

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5 years

Online @NatureRevGenet - Deep learning: new computational modelling techniques for genomics

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2 years

Online @Nature Breakage of cytoplasmic chromosomes by pathological DNA base excision repair

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4 years

Identifying genetic variants underlying phenotypic variation in plants without complete genomes (Voichek & Weigel)

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3 years

📢Out today in @NatureGenet from @BizarMd Aviv Regev and colleagues: Multimodal pooled Perturb-CITE-seq screens in patient models define mechanisms of cancer immune evasion |

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3 years

🔥HOT OFF THE PRESS @NatureGenet Ultraconserved enhancer function does not require perfect sequence conservation by @diane_dickel @AxelVisel and colleagues 👉

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1 year

🔥 HOT OFF THE PRESS @NatureGenet 📰 Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains 👩🏾‍🤝‍👨🏿 @AndersBorglum @DemontisDitte and team ⬇️

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate...

Nature Genetics - Genome-wide analyses identify 27 loci associated with attention-deficit hyperactivity disorder and provide insights into its genetic architecture in relation to other psychiatric...

www.nature.com

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3 years

✨Online today @NatureGenet from Andrew Bassett @jschwart37 and colleagues: Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes🧠🧬|

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2 years

‼️ OUT TODAY @NatureGenet 📰 Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and refines the consensus molecular classification of colorectal cancer 🧑🏿‍🤝‍🧑🏼 @iaintan_mdphd @shyam_lab @astar_gis and colleagues 👇🏿

Single-cell and bulk transcriptome sequencing identifies two epithelial tumor cell states and...

Nature Genetics - A single-cell transcriptomic analysis of 63 patients with colorectal cancer classifies tumor cells into two epithelial subtypes. An improved tumor classification based on...

www.nature.com

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5 years

A global overview of pleiotropy and genetic architecture in complex traits (Watanabe et al.)

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4 years

Online @nature : Exome sequencing and characterization of 49,960 individuals in the UK Biobank

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2 years

🚨 PUBLISHED TODAY @NatureGenet 📰 Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects 🧑🏾‍🤝‍🧑🏼 Laurence J. Howe, Ben Brumpton, @explodecomputer , Neil M. Davies, and colleagues 👇🏼

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

Nature Genetics - Within-sibship genome-wide association analyses using data from 178,076 siblings illustrate differences between population-based and within-sibship GWAS estimates for phenotypes...

www.nature.com

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4 years

Multi-cancer analysis of clonality and the timing of systemic spread in paired primary tumors and metastases (Hu et al.)

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4 years

Online at Nature: Telomere-to-telomere assembly of a complete human X chromosome

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1 year

💫 OUT NOW @NatureGenet 📰 Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals 🧑‍🤝‍🧑 @bpasaniuc @kangchenghou and team 👇🏾

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3 years

✨Out today @NatureGenet : Metabolic control of DNA methylation in naive pluripotent cells 🧬 |

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6 years

Functional classification of long non-coding RNAs by k-mer content (Kirk et al.)

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5 years

Online @nature Genome-wide cell-free DNA fragmentation in patients with cancer

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10 months

✨ ONLINE @NatureGenet 📰 Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases 🧑🏼‍🤝‍🧑🏻 Elle M. Weeks, Hilary K. Finucane and team 👇🏼

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1 year

📣 ONLINE NOW @NatureGenet 📰 The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer 🧑🏿‍🤝‍🧑🏽 @DrDaleGarsed @annapoids @BowtellLab @PeterMacCC @UniMelb @WestmeadInst @MayoClinic and team ⬇️

The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer

Nature Genetics - A genomic and transcriptomic analysis identifies molecular features associated with long-term survival in ovarian cancer. Exceptional survival was heterogeneous across the cohort,...

www.nature.com

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6 years

Genetic identification of brain cell types underlying schizophrenia (Skene et al.)