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FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation.

Authors :Zhou H , Verma V , Li X , Li Z , Shedd N , Li TC , Yang H , Zhang A , Borsari B , Buyske S , Gerstein M , Matise T , Zody MC , Neale B , Weng Z , Sunyaev SR , Lin X
Published On :2026 Jan 6
Journal Article


The 9p21.3 Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of MTAP.

Authors :Audam TN , Schmandt B , Huang Y , Cho YB , Murali M , Kaalia R , Agrawal S , Liu J , Shi H , Zhou Y , Cao D , Jiang L , Li Y , Wen J , Zhao H , Saadat A , Hall A , Laber S , Strobel S , Chen S , McGonagle E , Stefek A , Reeve MP , Ham AM , White CM , Melanson M , Khera AV , Epstein CB , Chaffin M , Ellinor PT , Wang M , Daly MJ , Karczewski KJ , Jones T , Dashti H , Claussnitzer M
Published On :2025 Nov 18
Journal Article Preprint


Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Authors :Yu M , Zhang Q , Yuan K , Sazonovs A , Stevens CR , Fachal L , International Inflammatory Bowel Disease Genetics Consortium Sequencing Group, , Lamb CA , Anderson CA , Daly MJ , Huang H
Published On :2026 Feb 11
Journal Article


Interpreting the functional impact of genetic variants: The need for context qualifiers.

Authors :Martinelli S , Cavé H , De Luca A , DiStefano M , Karchin R , Lugones AC , O'Donnell-Luria A , Ritter DI , Tamborero D , Tolstorukov MY , Campregher PV , Tartaglia M , Sonkin D
Published On :2026 Jan 8
Journal Article Review



Dissecting pleiotropy to gain mechanistic insights into human disease.

Authors :Jee YH , He Y , Lu W , Shi Y , Lazarev D , Daly MJ , Reeve MP , Martin AR
Published On :2026 Apr
Journal Article Review Research Support, N.I.H., Extramural


Subclade B3 and D3 enterovirus D68 among children with severe community-acquired pneumonia in China, 2021 to 2024.

Authors :Zhou Y , Lin J , Zhang X , Zhu Y , Wang L , Cao L , Shi Y , Sun G , Wu J , Liu S , Zhao S , Huo W , Zou X , Tan W , Lu R , Shen J
Published On :2025 Nov 27
Journal Article


Convergent flow-mediated mesenchymal force drives embryonic foregut constriction and splitting.

Authors :Yan R , Hoffmann LA , Oikonomou P , Li D , Lee C , Gill HK , Mongera A , Nerurkar NL , Mahadevan L , Tabin CJ
Published On :2025 Nov 27
Journal Article


Genetics and context for precision health in Greater Boston.

Authors :Koyama S , Wang Y , Paruchuri K , Uddin MM , Cho SMJ , Urbut SM , Sui Y , Fahed AC , Kamineni H , Haidermota S , Hornsby WE , Green RC , Daly MJ , Neale BM , Ellinor PT , Smoller JW , Slaugenhaupt SA , Lebo MS , Karlson EW , Martin AR , Natarajan P
Published On :2025 Nov 26
Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural


Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Authors :Cheng YH , Sedeño-Cortés AE , Ranchalis JE , Munson KM , Vollger MR , Balton E , Genetti CA , Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, University of Washington Center for Rare Diseases Research , Wojcik MH , Beggs AH , Bamshad MJ , Wei CL , Dipple KM , Kumar RD , Blue EE , Jarvik G , Chong JX , Witten DM , O'Donnell-Luria A , Stergachis AB
Published On :2025 Nov 13
Journal Article Preprint


Integrated AAV optimization enables efficient gene delivery to kidney in murine and human tissue.

Authors :Garcia FG , Moreno MR , Chetty S , Johnson N , An A , Sostena J , Thompson L , Wang J , Charu V , Lee J , Meyer N , Stoller M , Yang H , Boutagy N , DiRito J , Tietjen G , Toscano CA , Garcia-Gonzalez M , Church G , Kay M , Thakor A , Bhalla V , Maxim D
Published On :2025 Oct 24
Journal Article Preprint


Industrialization drives convergent microbial and physiological shifts in the human metaorganism.

Authors :Poyet M , Rühlemann M , Schaan AP , Ma Y , Moitinho-Silva L , Wacker EM , Jebens H , Patel L , Nguyen LTT , Zimmer A , Plichta D , McDonald D , Stevens C , Agyei A , Afihene MY , Asibey SO , Awuku YA , Badiane AS , Ching LS , Corzett C , Deme A , Dominguez-Rodrigo M , Duah A , Fezeu A , Froment A , Gibbons S , Girard C , Hooker J , Ibrahim F , Iqaluk D , Juimo V , Kettunen P , Lafosse S , Lango-Yaya E , Lehtimäki J , Lim YAL , Mabulla A , Mahachai V , Mohamed RS , Moniz K , Mwikarago IE , Nartey YA , Ndiaye D , Noel M , Onyekwere C , Pin TM , Plymoth A , Roberts L , Ruokolainen L , Rusine J , Segurel L , Shapiro BJ , Sigwazi S , Sistiaga A , Valles K , Vatanen T , Vilaichone RK , Rosenstiel P , Baines J , Franke A , Ellinghaus D , Knight R , Daly M , Xavier RJ , Alm EJ , Groussin M
Published On :2025 Oct 20
Journal Article Preprint


A comprehensive view of somatic mosaicism by single-cell DNA analysis.

Authors :Luquette LJ , Coorens THH , Natu A , Suvakov M , Caplin A , Jun MS , Mo A , Pelt J , Anderson L , Berselli M , Bhamidipati S , Blanchard T , Brew J , Chun HE , Chun H , Dehankar MK , Feng WC , Furatero R , Grochowski CM , Ho E , Jang Y , Kottapalli K , Leonard MK , Lim NS , Lindsay T , Nicholson S , Raimondi I , Runnels A , Scharlee C , Shin J , Veit AD , VonDran M , Wang Y , Yuan DJ , Zhao Y , SMaHT Single Cell Focus Group , Bell TJ , Ardlie K , Doddapaneni H , Fulton R , Germer S , Landau D , Oh JW , Park PJ , Vaccarino FM , Walsh C , Abyzov A
Published On :2025 Nov 3
Journal Article Preprint


Understanding gerontological nursing competence among nursing students in higher vocational colleges: a cross-sectional study.

Authors :Chen Q , Wang K , Gao Y , Shen J , Jia Q , Wang X
Published On :2025
Journal Article


Large Class of Neurodevelopmental Disorders Requires Genome Sequencing for Diagnosis.

Authors :Berger SI , O'Donnell-Luria A
Published On :2026 Jan
Journal Article