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A genomic mutational constraint map using variation in 76,156 human genomes.

Authors :Chen S , Francioli LC , Goodrich JK , Collins RL , Kanai M , Wang Q , Alföldi J , Watts NA , Vittal C , Gauthier LD , Poterba T , Wilson MW , Tarasova Y , Phu W , Grant R , Yohannes MT , Koenig Z , Farjoun Y , Banks E , Donnelly S , Gabriel S , Gupta N , Ferriera S , Tolonen C , Novod S , Bergelson L , Roazen D , Ruano-Rubio V , Covarrubias M , Llanwarne C , Petrillo N , Wade G , Jeandet T , Munshi R , Tibbetts K , Genome Aggregation Database Consortium , O'Donnell-Luria A , Solomonson M , Seed C , Martin AR , Talkowski ME , Rehm HL , Daly MJ , Tiao G , Neale BM , MacArthur DG , Karczewski KJ
Published On :2024 Jan
Journal Article


Inferring compound heterozygosity from large-scale exome sequencing data.

Authors :Guo MH , Francioli LC , Stenton SL , Goodrich JK , Watts NA , Singer-Berk M , Groopman E , Darnowsky PW , Solomonson M , Baxter S , gnomAD Project Consortium , Tiao G , Neale BM , Hirschhorn JN , Rehm HL , Daly MJ , O'Donnell-Luria A , Karczewski KJ , MacArthur DG , Samocha KE
Published On :2024 Jan
Journal Article


CXCL10 and Nrf2-upregulated mesenchymal stem cells reinvigorate T lymphocytes for combating glioblastoma.

Authors :Mao J , Li J , Chen J , Wen Q , Cao M , Zhang F , Li B , Zhang Q , Wang Z , Zhang J , Shen J
Published On :2023 Dec 6
Journal Article


Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study.

Authors :Viau K , Martell L , Wessel A , Rohr F , Hollander S , Putman MS , Sacharow S
Published On :2023 Dec
Journal Article


Integrated transcriptomics, proteomics, and functional analysis to characterize the tissue-specific small extracellular vesicle network of breast cancer.

Authors :Shen L , Huang H , Wei Z , Chen W , Li J , Yao Y , Zhou J , Liu J , Sun S , Xia W , Zhang T , Yu X , Shen J , Wang W , Jiang J , Huang J , Jiang M , Ni C
Published On :2023 Dec
Journal Article


Organized Chronic Subdural Hematoma Mimicking Acute Epidural Hematoma.

Authors :Cao J , Wang Z , Liu C , Shen J , Fang J
Published On :2023
Journal Article


Identification of a Novel Target Implicated in Chronic Obstructive Sleep Apnea-Related Atrial Fibrillation by Integrative Analysis of Transcriptome and Proteome.

Authors :Shen J , Liang J , Rejiepu M , Yuan P , Xiang J , Guo Y , Xiaokereti J , Zhang L , Tang B
Published On :2023
Journal Article


A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.

Authors :Seplyarskiy V , Koch EM , Lee DJ , Lichtman JS , Luan HH , Sunyaev SR
Published On :2023 Dec
Journal Article


Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution.

Authors :Kang JB , Shen AZ , Gurajala S , Nathan A , Rumker L , Aguiar VRC , Valencia C , Lagattuta KA , Zhang F , Jonsson AH , Yazar S , Alquicira-Hernandez J , Khalili H , Ananthakrishnan AN , Jagadeesh K , Dey K , Accelerating Medicines Partnership Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP RA/SLE) Network , Daly MJ , Xavier RJ , Donlin LT , Anolik JH , Powell JE , Rao DA , Brenner MB , Gutierrez-Arcelus M , Luo Y , Sakaue S , Raychaudhuri S
Published On :2023 Dec
Journal Article


Improving fine-mapping by modeling infinitesimal effects.

Authors :Cui R , Elzur RA , Kanai M , Ulirsch JC , Weissbrod O , Daly MJ , Neale BM , Fan Z , Finucane HK
Published On :2024 Jan
Journal Article


Digital phenotyping: An equal opportunity approach to reducing disparities in Alzheimer's disease and related dementia research.

Authors :Britton GB , Huang LK , Villarreal AE , Levey A , Philippakis A , Hu CJ , Yang CC , Mushi D , Oviedo DC , Rangel G , Ho JS , Thompson L , Khemakhem M , Ross M , Carreira MB , Kim N , Joung P , Albastaki O , Kuo PC , Low S , Paddick SM , Kuan YC , Au R
Published On :2023 Oct-Dec
Journal Article


Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.

Authors :Rashid S , Molotkov I , Klebanov N , Shaughnessy M , Daly MJ , Artomov M , Tsao H
Published On :2023 Nov
Journal Article


Long non-coding RNA PRR7-AS1 promotes osteosarcoma progression via binding RNF2 to transcriptionally suppress MTUS1.

Authors :Chen-Xi G , Jin-Fu X , An-Quan H , Xiao Y , Ying-Hui W , Suo-Yuan L , Cong S , Tian-Ming Z , Jun S
Published On :2023
Journal Article