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Systematic common and rare variant association testing in 392,030 whole genomes in All of Us.

Authors :Lu W , Carroll RJ , Solomonson M , Guez J , He MK , Marten DJ , Martinez-Carrasco A , Wang Y , Dowd CS , Kanai M , Gorissen BL , Kouame AJS , Brogan J , Waxse BJ , Samarakoon R , Cook JA , Qian J , Zhou Y , Choi KW , Basford M , Lyons M , Linder JE , Stewart S , Gupta N , Schultz P , Goldstein D , Llanwarne C , Goldstein JI , Higham EGC , King DC , Palmer DS , Elenbaas JS , Rohlicek GK , He Q , Goodrich JK , All of Us Research Program Genomics Investigators , Smoller JW , Lichtenstein L , Gabriel SB , Martin AR , Karnes JH , Hebbring SJ , Daly MJ , Dutka T , Musick A , Denny JC , Zhou W , Roden DM , Neale BM , Karczewski KJ
Published On :2026 May 12
Journal Article Preprint


A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

Authors :McGuigan A , Pagnamenta AT , Covill LE , Samson J , Camps C , Chen Y , Moitra T , Chundru K , O'Heir E , Allan K , Arno G , Broomfield A , Delatycki M , Lin S , Michaelides M , Rius R , Roscioli T , Simons C , Webster A , White SM , Wilson L , Sanders SJ , O'Donnell-Luria A , Ellingford JM , Taylor JC , Whiffin N
Published On :2026 May 15
Journal Article Preprint


Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy.

Authors :Tyrmi JS , Karjalainen J , Venkatesh SS , Benoit-Pilven C , Lemmelä SM , Brunak S , Aagaard B , Bruun MT , Erikstrup C , Ullum H , Pedersen OB , Banasik K , Sørensen E , Mikkelsen C , Schwinn M , Sturluson A , Ostrowski SR , FinnGen , Estonian Biobank research team , DBDS Genomic Consortium , Kettunen J , Nielsen HS , Nyegaard M , Westergaard D , Rafnar T , Sulem P , Stefansson K , Palta P , Laisk T , Tukiainen T , Lindgren CM , Daly M , Havulinna AS , Laivuori HM
Published On :2026 May 25
Journal Article Meta-Analysis


Genetic variants affect diurnal glucose levels throughout the day.

Authors :Sinnott-Armstrong N , Strausz S , Urpa L , Abner E , Johnson JP , Valliere J , Palumaa T , FinnGen , Estonian Biobank Research Team , VA Million Veteran Program , Palta P , Dashti HS , Chang KM , Vujkovic M , Daly M , Pritchard JK , Saxena R , Jones SE , Ollila HM
Published On :2026 May 22
Journal Article



Sarsasapogenin attenuates renal ischemia-reperfusion injury by inhibiting the NF-κB pathway and NLRP3 inflammasome-mediated pyroptosis.

Authors :Yuan Q , Li Y , Shen K , Zhang R , Wang Q , Xia S , Shen J
Published On :2026 Aug 15
Journal Article


Experimental and Computational Approaches to Identify Noncoding Pathogenic Variation in Rare Disease.

Authors :Covill LE , Romo L , O'Donnell-Luria A
Published On :2026 May 21
Journal Article Review



Inflammatory bowel disease phenotypes in diverse populations: a global comparative analysis.

Authors :Bernstein CN , Kaplan GG , Nugent Z , Ahuja V , Ananthakrishnan AN , Banerjee R , Burisch J , Chen Y , Epstein D , Forbes AJ , Gonczi L , Gu Y , Gunawan J , Hang DV , Kaibullayeva J , Kopylov U , Kotze PG , Iade B , Lakatos PL , Limsrivilai J , Liang J , Mak JWY , Ng S , Severs M , Shen J , Sood A , Yamamoto-Furusho JK , Yuan S , Wewer MD , Wu K , Windsor JW , Gearry RB , Globalization Cluster of the International Organization for the Study of IBD
Published On :2026 May 8
Journal Article Comparative Study


USP22 inhibition potentiates GPC3 chimeric antigen receptor macrophages efficacy in hepatocellular carcinoma by downregulating tumor CD24 expression.

Authors :Pan J , Pan S , Lei Y , Li J , Zhong X , Tang L , Xu S , Ling S , Lu D , Wang K , Hao S , Li L , Wu Z , Wang H , Cheng T , Shen J , Xu X , Wei Q
Published On :2026 Sep 1
Journal Article


Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing.

Authors :Mossayebi MH , Adams SJ , Bunnell ME , Guseh SH , Wilkins-Haug LE
Published On :2026 May 19
Journal Article


Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Authors :Rius R , Blakes AJM , Chen Y , De Jonghe J , Lecoquierre F , Dawes R , Cogne B , Kim HC , Alvi JR , Amblard F , Ansari M , Arlt A , Austin-Tse C , Baer S , Balasubramanian M , Balton EV , Barcia G , Beleza-Meireles A , Bernstein JA , Beygo J , Blanc P , Bramswig NC , Braun F , Buchzik D , Calame DG , Campbell J , Coutton C , Cunningham CA , Dargie N , Depienne C , Dipple KM , Dieux A , Dixit A , Dreyer L , Du H , El Chehadeh S , Field M , Ewans LJ , Geiger V , Gibbs RA , Glass I , Grunewald O , Gueguen P , Haack TB , Hadj Abdallah H , Harbuz R , Helbig I , Horvath J , Hustinx A , Isidor B , Jacquemont ML , Jamie F , Jeanne M , Kessler R , Klinkhammer H , Korenke GC , Kotzaeridou U , Krawitz P , Laurie S , Leventer RJ , Levy RJ , Lupski JR , Marijon P , McGinnis KE , Mendez R , Messaoud O , Nava C , Nizard M , O'Donnell-Luria A , O'Leary MC , Olivieri S , Parida A , Pehlivan D , Prentice AJ , Posey JE , Reuter CM , Satre V , Schluth-Bolard C , Smol T , Sultan T , Taylor J , Thauvin-Robinet C , Thevenon J , Uebergang E , Ueberberg S , Vincent-Delorme C , Wassmer E , Westwood E , Wheeler MT , Gulec EY , Vanderver A , Vossough A , Sanders SJ , Banka S , Findlay GM , MacArthur DG , Simons C , Whiffin N
Published On :2026 Jun
Published Erratum


Machine learning cross-platform proteomic imputation enables protein quality scoring and replication of epidemiological associations.

Authors :Li L , Alaa A , Tan Y , Demirel I , Friedman S , Zha Q , Tracy R , Taylor KD , Yu B , Ballantyne CM , Deo R , Dubin R , Tsai MY , Peloso GM , Brody J , Austin T , Psaty BM , Nicholas J , Raffield LM , Tahir U , Coresh J , Hornsby W , Chan A , Rich SS , Rotter JI , Ganz P , Gerszten R , Philippakis A , Natarajan P , Yu Z
Published On :2026 May 9
Journal Article Preprint


NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa.

Authors :Kipkemoi P , O'Heir E , Amin M , Stenton SL , Baddoo W , Brand H , Bruwer Z , Bryant S , Chepkemoi E , Christ B , Eastman E , Fourie C , Fu JM , Galvin A , Hall S , Kim HA , Khan F , Kipkoech C , Kombe M , Mapenzi R , Melly B , van der Merwe C , Mkubwa B , Murugasen S , Mwangasha K , Mwangi P , Mwasambu S , Ngombo A , Nyale J , Osei-Owusu I , Ringshaw JE , Russell KA , Samocha KE , Sanchis-Juan A , Singer-Berk M , VanNoy GE , Zieff M , Talkowski ME , O'Donnell-Luria A , Austin-Tse C , Newton CR , Abubakar A , Donald KA , Robinson EB
Published On :2026 May 6
Journal Article Preprint


Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder.

Authors :Satterstrom FK , Jodeiry K , Mahjani B , Hatem G , Park SJ , Klei L , Fu JM , Wigdor EM , Autism Sequencing Consortium , Betancur C , Daly MJ , Roeder K , Devlin B , Buxbaum JD , Cutler DJ
Published On :2026 May 7
Journal Article Preprint