Nature Genetics
Nature Genetics is the primary research journal for the genetics community. With a reputation for quality global coverage, Nature Genetics delivers the latest research across the field, including human genetics and genomics, genomics in plant and animal breeding, epigenetics, cancer and genetic technology. With News and Views, Analysis, Perspectives, Letters, Articles and Technical Reports, Nature Genetics is consistently the most frequently cited primary research journal in the field of Genetics and Heredity.
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Nature Publishing Group
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© 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Nature Genetics
© 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
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Nature Genetics
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https://www.nature.com/articles/s41588-024-01691-0
Nature Genetics, Published online: 29 March 2024; doi:10.1038/s41588-024-01691-0We have curated a comprehensive single-cell reference map of the human breast. Our data explore how age, parity and germline mutations might influence cellular dynamics, revealing unexpected signs of immune exhaustion in healthy tissues from carriers of BRCA1 or BRCA2 germline mutations.]]>
doi:10.1038/s41588-024-01691-0
Nature Genetics, Published online: 2024-03-29; | doi:10.1038/s41588-024-01691-0
2024-03-29
Nature Genetics
10.1038/s41588-024-01691-0
https://www.nature.com/articles/s41588-024-01691-0
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https://www.nature.com/articles/s41588-024-01686-x
Nature Genetics, Published online: 29 March 2024; doi:10.1038/s41588-024-01686-xWhole-genome sequencing in a Canadian cohort of 327 children with cerebral palsy compared to pediatric controls identifies novel pathogenic single-nucleotide variants/indels and copy number variations. In addition, mitochondrial variants in known disease genes were identified. This highlights the importance of genomic testing for individuals with cerebral palsy.]]>
Darcy L. FehlingsMehdi ZarreiWorrawat EngchuanNeal SondheimerBhooma ThiruvahindrapuramJeffrey R. MacDonaldEdward J. HigginbothamRitesh ThapaTarannum BehlimSabrina AimolaLauren SwitzerPamela NgJohn WeiPrakroothi S. DanthiGiovanna PellecchiaSylvia LamoureuxKaren HoSergio L. PereiraJill de RijkeWilson W. L. SungAlireza MowjoodiJennifer L. HoweThomas NalpathamkalamRoozbeh ManshaeiSiavash GhaffariJoseph WhitneyRohan V. PatelOmar HamdanRulan ShaathBrett TrostShannon KnightsDawa SamdupAnna McCormickCarolyn HuntAdam KirtonAnne KawamuraRonit MestermanJan Willem GorterNomazulu DlaminiDaniele MericoMurto HilaliKyle HirschfeldKritika GroverNelson X. BautistaKara HanChristian R. MarshallRyan K. C. YuenPadmaja SubbaraoMeghan B. AzadStuart E. TurveyPiush MandhaneTheo J. MoraesElinor SimonsGeorge MaxwellMichael ShevellGregory CostainJacques L. MichaudFadi F. HamdanJulie GauthierKevin UguenDimitri J. StavropoulosRichard F. WintleMaryam OskouiStephen W. Scherer
doi:10.1038/s41588-024-01686-x
Nature Genetics, Published online: 2024-03-29; | doi:10.1038/s41588-024-01686-x
2024-03-29
Nature Genetics
10.1038/s41588-024-01686-x
https://www.nature.com/articles/s41588-024-01686-x
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https://www.nature.com/articles/s41588-024-01684-z
Nature Genetics, Published online: 28 March 2024; doi:10.1038/s41588-024-01684-zIncorporating protein-altering copy number variants ascertained from UK Biobank whole-exome sequencing data into analyses of rare predicted loss-of-function variants identifies complex trait associations not detectable using standard analysis methods.]]>
Margaux L. A. HujoelRobert E. HandsakerMaxwell A. ShermanNolan KamitakiAlison R. BartonRonen E. MukamelChikashi TeraoSteven A. McCarrollPo-Ru Loh
doi:10.1038/s41588-024-01684-z
Nature Genetics, Published online: 2024-03-28; | doi:10.1038/s41588-024-01684-z
2024-03-28
Nature Genetics
10.1038/s41588-024-01684-z
https://www.nature.com/articles/s41588-024-01684-z
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https://www.nature.com/articles/s41588-024-01702-0
Nature Genetics, Published online: 28 March 2024; doi:10.1038/s41588-024-01702-0Single-cell transcriptomics and expression quantitative trait locus mapping in 114 lung tissue samples, including 66 with interstitial lung disease, highlight the cell-type-specific functions of risk variants contributing to disease pathobiology.]]>
Heini M. NatriChristina B. Del AzodiLance PeterChase J. TaylorSagrika ChughRobert KendleMei-i ChungDavid K. FlahertyBrittany K. MatlockCarla L. CalviTimothy S. BlackwellLorraine B. WareMatthew BacchettaRajat WaliaCiara M. ShaverJonathan A. KropskiDavis J. McCarthyNicholas E. Banovich
doi:10.1038/s41588-024-01702-0
Nature Genetics, Published online: 2024-03-28; | doi:10.1038/s41588-024-01702-0
2024-03-28
Nature Genetics
10.1038/s41588-024-01702-0
https://www.nature.com/articles/s41588-024-01702-0
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https://www.nature.com/articles/s41588-024-01688-9
Nature Genetics, Published online: 28 March 2024; doi:10.1038/s41588-024-01688-9Single-cell RNA sequencing analysis of over 800,000 human adult breast cells from 55 female donors identifies 41 cell subtypes and highlights age- and parity-dependent effects. Samples from healthy women with germline mutations in BRCA1 or BRCA2 showed signs of T cell exhaustion.]]>
Austin D. ReedSara PensaAdi SteifJack StenningDaniel J. KunzLinsey J. PorterKui HuaPeng HeAlecia-Jane TwiggerAbigail J. Q. SiuKatarzyna KaniaRachel Barrow-McGeeIain GouldingJennifer J. GommValerie SpeirsJ Louise JonesJohn C. MarioniWalid T. Khaled
doi:10.1038/s41588-024-01688-9
Nature Genetics, Published online: 2024-03-28; | doi:10.1038/s41588-024-01688-9
2024-03-28
Nature Genetics
10.1038/s41588-024-01688-9
https://www.nature.com/articles/s41588-024-01688-9
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https://www.nature.com/articles/s41588-024-01700-2
Nature Genetics, Published online: 25 March 2024; doi:10.1038/s41588-024-01700-2The exact relationship between 3D chromatin interactions and enhancer function is unclear. By probing three-dimensional enhancer interactions in developing embryos, two studies now show nuanced dynamics in tissue-specific contexts and reveal how moderately increased enhancer–promoter interactions coincide with functionality.]]>
Daniel M. Ibrahim
doi:10.1038/s41588-024-01700-2
Nature Genetics, Published online: 2024-03-25; | doi:10.1038/s41588-024-01700-2
2024-03-25
Nature Genetics
10.1038/s41588-024-01700-2
https://www.nature.com/articles/s41588-024-01700-2
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https://www.nature.com/articles/s41588-024-01690-1
Nature Genetics, Published online: 25 March 2024; doi:10.1038/s41588-024-01690-1In mice, zygotic genome activation occurs at onset of the two-cell stage in embryonic development and coincides with the exit from totipotency. Our work shows that the transcription factor DUXBL participates in silencing part of the stage-specific two-cell-associated transcriptional program and is required for development to proceed.]]>
doi:10.1038/s41588-024-01690-1
Nature Genetics, Published online: 2024-03-25; | doi:10.1038/s41588-024-01690-1
2024-03-25
Nature Genetics
10.1038/s41588-024-01690-1
https://www.nature.com/articles/s41588-024-01690-1
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https://www.nature.com/articles/s41588-024-01689-8
Nature Genetics, Published online: 21 March 2024; doi:10.1038/s41588-024-01689-8Single-cell ATAC + RNA linking (SCARlink) predicts gene expression by jointly modeling local tiled chromatin accessibility using regularized Poisson regression on multi-ome data. SCARlink predictions can be used to identify cell-type-specific enhancers and perform chromatin potential analysis.]]>
Sneha MitraRohan MalikWilfred WongAfsana RahmanAlexander J. HarteminkYuri PritykinKushal K. DeyChristina S. Leslie
doi:10.1038/s41588-024-01689-8
Nature Genetics, Published online: 2024-03-21; | doi:10.1038/s41588-024-01689-8
2024-03-21
Nature Genetics
10.1038/s41588-024-01689-8
https://www.nature.com/articles/s41588-024-01689-8