• Reference Citation Analysis
  • v
  • v
  • Find an Article
Find an Article PDF (4807744)   Today's Articles (46)
For: Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012;337:64-9. [PMID: 22604720 PMCID: PMC3708544 DOI: 10.1126/science.1219240] [Citation(s) in RCA: 1244] [Impact Index Per Article: 95.7] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Number Cited by Other Article(s)
1
Zhao Y, Lan T, Zhong G, Hagen J, Pan H, Chung WK, Shen Y. A probabilistic graphical model for estimating selection coefficients of nonsynonymous variants from human population sequence data. Nat Commun 2025;16:4670. [PMID: 40393980 DOI: 10.1038/s41467-025-59937-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2024] [Accepted: 05/06/2025] [Indexed: 05/22/2025]  Open
2
Yurtseven A, Keller S, Hirsch P, Kalinina OV, Gress A. StructMAn 2.0 Web: a web server for structural annotation of protein sequences and mutations. Nucleic Acids Res 2025:gkaf381. [PMID: 40326516 DOI: 10.1093/nar/gkaf381] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/03/2025] [Revised: 04/11/2025] [Accepted: 04/25/2025] [Indexed: 05/07/2025]  Open
3
Arnab SP, Campelo dos Santos AL, Fumagalli M, DeGiorgio M. Efficient Detection and Characterization of Targets of Natural Selection Using Transfer Learning. Mol Biol Evol 2025;42:msaf094. [PMID: 40341942 PMCID: PMC12062966 DOI: 10.1093/molbev/msaf094] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/04/2024] [Revised: 04/16/2025] [Accepted: 04/17/2025] [Indexed: 05/11/2025]  Open
4
Garcia-Calleja J, Biagini SA, de Cid R, Calafell F, Bosch E. Inferring past demography and genetic adaptation in Spain using the GCAT cohort. Sci Rep 2025;15:14225. [PMID: 40274920 PMCID: PMC12022144 DOI: 10.1038/s41598-025-98272-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2024] [Accepted: 04/10/2025] [Indexed: 04/26/2025]  Open
5
Soni V, Jensen JD. Inferring demographic and selective histories from population genomic data using a 2-step approach in species with coding-sparse genomes: an application to human data. G3 (BETHESDA, MD.) 2025;15:jkaf019. [PMID: 39883523 PMCID: PMC12005166 DOI: 10.1093/g3journal/jkaf019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/20/2024] [Revised: 01/14/2025] [Accepted: 01/27/2025] [Indexed: 01/31/2025]
6
Wang YX, Fei CJ, Shen C, Ou YN, Liu WS, Yang L, Wu BS, Deng YT, Feng JF, Cheng W, Yu JT. Exome sequencing identifies protein-coding variants associated with loneliness and social isolation. J Affect Disord 2025;375:192-204. [PMID: 39842675 DOI: 10.1016/j.jad.2025.01.096] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/24/2024] [Revised: 10/31/2024] [Accepted: 01/18/2025] [Indexed: 01/24/2025]
7
Kolbe D, Dose J, Putter P, Ziemann M, Laudes M, Slagboom PE, Franke A, Deelen J, Nebel A. German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway. GeroScience 2025:10.1007/s11357-025-01640-7. [PMID: 40232348 DOI: 10.1007/s11357-025-01640-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/11/2025] [Accepted: 03/30/2025] [Indexed: 04/16/2025]  Open
8
Zhao Y, Lan T, Zhong G, Hagen J, Pan H, Chung WK, Shen Y. A probabilistic graphical model for estimating selection coefficient of nonsynonymous variants from human population sequence data. MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES 2025:2023.12.11.23299809. [PMID: 38168397 PMCID: PMC10760286 DOI: 10.1101/2023.12.11.23299809] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2024]
9
Xu IRL, Danzi MC, Raposo J, Züchner S. The continued promise of genomic technologies and software in neurogenetics. J Neuromuscul Dis 2025:22143602251325345. [PMID: 40208247 DOI: 10.1177/22143602251325345] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 04/11/2025]
10
Patin E, Quintana-Murci L. Tracing the Evolution of Human Immunity Through Ancient DNA. Annu Rev Immunol 2025;43:57-82. [PMID: 39705165 DOI: 10.1146/annurev-immunol-082323-024638] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2024]
11
Achouri-Rassas A, Fray S, Said Z, Ben Sassi S, Ben Ali N, Baraket G. Genetic association study between rs2234253 (p.T96K) variant of TREM2 and Alzheimer's disease in a Tunisian population. Neurol Res 2025;47:290-295. [PMID: 40043316 DOI: 10.1080/01616412.2025.2472841] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/08/2024] [Accepted: 02/21/2025] [Indexed: 04/02/2025]
12
Vasquez C, Osgood NB, Zepeda M, Sandel D, Cowan Q, Peiris M, Donoghue D, Komor A. Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants. Nucleic Acids Res 2025;53:gkaf037. [PMID: 40156857 PMCID: PMC11952967 DOI: 10.1093/nar/gkaf037] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/18/2024] [Revised: 01/08/2025] [Accepted: 01/16/2025] [Indexed: 04/01/2025]  Open
13
Shastry V, Berg JJ. Allele ages provide limited information about the strength of negative selection. Genetics 2025;229:iyae211. [PMID: 39698825 PMCID: PMC11912868 DOI: 10.1093/genetics/iyae211] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/19/2024] [Accepted: 12/12/2024] [Indexed: 12/20/2024]  Open
14
Arnab SP, Dos Santos ALC, Fumagalli M, DeGiorgio M. Efficient detection and characterization of targets of natural selection using transfer learning. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2025:2025.03.05.641710. [PMID: 40093065 PMCID: PMC11908262 DOI: 10.1101/2025.03.05.641710] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 03/19/2025]
15
Ragsdale AP. Archaic introgression and the distribution of shared variation under stabilizing selection. PLoS Genet 2025;21:e1011623. [PMID: 40163477 PMCID: PMC11964463 DOI: 10.1371/journal.pgen.1011623] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2024] [Revised: 04/02/2025] [Accepted: 02/14/2025] [Indexed: 04/02/2025]  Open
16
Martins Rodrigues F, Jasielec J, Perpich M, Kim A, Moma L, Li Y, Storrs E, Wendl MC, Jayasinghe RG, Fiala M, Stefka A, Derman B, Jakubowiak AJ, DiPersio JF, Vij R, Godley LA, Ding L. Germline predisposition in multiple myeloma. iScience 2025;28:111620. [PMID: 39845416 PMCID: PMC11750583 DOI: 10.1016/j.isci.2024.111620] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/08/2024] [Revised: 10/04/2024] [Accepted: 11/14/2024] [Indexed: 01/24/2025]  Open
17
Zou X, Zhao Z, Chen Y, Xiong K, Wang Z, Chen S, Chen H, Wei GH, Xu S, Li W, Ni T, Li L. Impact of rare non-coding variants on human diseases through alternative polyadenylation outliers. Nat Commun 2025;16:682. [PMID: 39819850 PMCID: PMC11739498 DOI: 10.1038/s41467-024-55407-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2024] [Accepted: 12/11/2024] [Indexed: 01/19/2025]  Open
18
Meisner J, Benros ME, Rasmussen S. Leveraging haplotype information in heritability estimation and polygenic prediction. Nat Commun 2025;16:126. [PMID: 39747034 PMCID: PMC11695728 DOI: 10.1038/s41467-024-55477-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2024] [Accepted: 12/13/2024] [Indexed: 01/04/2025]  Open
19
Popova L, Carabetta VJ. The Use of Next-Generation Sequencing in Personalized Medicine. Methods Mol Biol 2025;2866:287-315. [PMID: 39546209 DOI: 10.1007/978-1-0716-4192-7_16] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/17/2024]
20
Saifullah, Ma Z, Li M, Maqbool MQ, Chen F. Family physician service quality and sustainability: a roadmap for Pakistan's healthcare sector. Front Med (Lausanne) 2024;11:1455807. [PMID: 39703521 PMCID: PMC11655198 DOI: 10.3389/fmed.2024.1455807] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2024] [Accepted: 11/12/2024] [Indexed: 12/21/2024]  Open
21
Seddon JM, De D, Grunenkovaite L, Ferrara D. Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications. Invest Ophthalmol Vis Sci 2024;65:31. [PMID: 39693084 DOI: 10.1167/iovs.65.14.31] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/19/2024]  Open
22
Thompson MD, Reiner-Link D, Berghella A, Rana BK, Rovati GE, Capra V, Gorvin CM, Hauser AS. G protein-coupled receptor (GPCR) pharmacogenomics. Crit Rev Clin Lab Sci 2024;61:641-684. [PMID: 39119983 DOI: 10.1080/10408363.2024.2358304] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/15/2023] [Revised: 09/03/2023] [Accepted: 05/18/2024] [Indexed: 08/10/2024]
23
Soni V, Jensen JD. Inferring demographic and selective histories from population genomic data using a two-step approach in species with coding-sparse genomes: an application to human data. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.09.19.613979. [PMID: 39605418 PMCID: PMC11601476 DOI: 10.1101/2024.09.19.613979] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Subscribe] [Scholar Register] [Indexed: 11/29/2024]
24
Pandey D, Harris M, Garud NR, Narasimhan VM. Leveraging ancient DNA to uncover signals of natural selection in Europe lost due to admixture or drift. Nat Commun 2024;15:9772. [PMID: 39532856 PMCID: PMC11557891 DOI: 10.1038/s41467-024-53852-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/11/2023] [Accepted: 10/23/2024] [Indexed: 11/16/2024]  Open
25
Hemstrom W, Grummer JA, Luikart G, Christie MR. Next-generation data filtering in the genomics era. Nat Rev Genet 2024;25:750-767. [PMID: 38877133 DOI: 10.1038/s41576-024-00738-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/25/2024] [Indexed: 06/16/2024]
26
Lv FH, Wang DF, Zhao SY, Lv XY, Sun W, Nielsen R, Li MH. Deep Ancestral Introgressions between Ovine Species Shape Sheep Genomes via Argali-Mediated Gene Flow. Mol Biol Evol 2024;41:msae212. [PMID: 39404100 PMCID: PMC11542629 DOI: 10.1093/molbev/msae212] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/10/2024] [Revised: 09/12/2024] [Accepted: 10/04/2024] [Indexed: 11/08/2024]  Open
27
Mattoo A, Jaffe IS, Keating B, Montgomery RA, Mangiola M. Improving long-term kidney allograft survival by rethinking HLA compatibility: from molecular matching to non-HLA genes. Front Genet 2024;15:1442018. [PMID: 39415982 PMCID: PMC11480002 DOI: 10.3389/fgene.2024.1442018] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2024] [Accepted: 09/19/2024] [Indexed: 10/19/2024]  Open
28
Milas I, Kaštelan Ž, Petrik J, Bingulac-Popović J, Čikić B, Šribar A, Jukić I. ABO Blood Type and Urinary Bladder Cancer: Phenotype, Genotype, Allelic Association with a Clinical or Histological Stage and Recurrence Rate. Glob Med Genet 2024;11:233-240. [PMID: 39040623 PMCID: PMC11262885 DOI: 10.1055/s-0044-1788614] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 07/24/2024]  Open
29
van den Belt S, Zhao H, Alachiotis N. Scalable CNN-based classification of selective sweeps using derived allele frequencies. Bioinformatics 2024;40:ii29-ii36. [PMID: 39230693 PMCID: PMC11373383 DOI: 10.1093/bioinformatics/btae385] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 09/05/2024]  Open
30
Kyriazis CC, Lohmueller KE. Constraining models of dominance for nonsynonymous mutations in the human genome. PLoS Genet 2024;20:e1011198. [PMID: 39302992 PMCID: PMC11446423 DOI: 10.1371/journal.pgen.1011198] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/25/2024] [Revised: 10/02/2024] [Accepted: 09/04/2024] [Indexed: 09/22/2024]  Open
31
DeVore SB, Schuetz M, Alvey L, Lujan H, Ochayon DE, Williams L, Chang WC, Filuta A, Ruff B, Kothari A, Hahn JM, Brandt E, Satish L, Roskin K, Herr AB, Biagini JM, Martin LJ, Cagdas D, Keles S, Milner JD, Supp DM, Khurana Hershey GK. Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease. Cell Rep 2024;43:114589. [PMID: 39110589 PMCID: PMC11469028 DOI: 10.1016/j.celrep.2024.114589] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/19/2024] [Revised: 06/19/2024] [Accepted: 07/19/2024] [Indexed: 09/01/2024]  Open
32
Kobren SN, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Corona RI, Carvalho Neto GDV, Willett J, Berselli M, Ronchetti W, Nelson SF, Martinez-Agosto JA, Sherwood R, Krier J, Kohane IS, Sunyaev SR. Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.02.13.580158. [PMID: 38405764 PMCID: PMC10888768 DOI: 10.1101/2024.02.13.580158] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 02/27/2024]
33
Berardi S, Rhodes JA, Berner MC, Greenblum SI, Bitter MC, Behrman EL, Betancourt NJ, Bergland AO, Petrov DA, Rajpurohit S, Schmidt P. Drosophila melanogaster pigmentation demonstrates adaptive phenotypic parallelism but genomic unpredictability over multiple timescales. BIORXIV : THE PREPRINT SERVER FOR BIOLOGY 2024:2024.08.09.607378. [PMID: 39211235 PMCID: PMC11361081 DOI: 10.1101/2024.08.09.607378] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 09/04/2024]
34
Li Y, Cacciottolo TM, Yin N, He Y, Liu H, Liu H, Yang Y, Henning E, Keogh JM, Lawler K, Mendes de Oliveira E, Gardner EJ, Kentistou KA, Laouris P, Bounds R, Ong KK, Perry JRB, Barroso I, Tu L, Bean JC, Yu M, Conde KM, Wang M, Ginnard O, Fang X, Tong L, Han J, Darwich T, Williams KW, Yang Y, Wang C, Joss S, Firth HV, Xu Y, Farooqi IS. Loss of transient receptor potential channel 5 causes obesity and postpartum depression. Cell 2024;187:4176-4192.e17. [PMID: 38959890 PMCID: PMC11961024 DOI: 10.1016/j.cell.2024.06.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/25/2023] [Revised: 03/24/2024] [Accepted: 05/31/2024] [Indexed: 07/05/2024]
35
Nagelberg AL, Sihota TS, Chuang YC, Shi R, Chow JLM, English J, MacAulay C, Lam S, Lam WL, Lockwood WW. Integrative genomics identifies SHPRH as a tumor suppressor gene in lung adenocarcinoma that regulates DNA damage response. Br J Cancer 2024;131:534-550. [PMID: 38890444 PMCID: PMC11300780 DOI: 10.1038/s41416-024-02755-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/20/2023] [Revised: 06/03/2024] [Accepted: 06/06/2024] [Indexed: 06/20/2024]  Open
36
Burt CH. Polygenic Indices (a.k.a. Polygenic Scores) in Social Science: A Guide for Interpretation and Evaluation. SOCIOLOGICAL METHODOLOGY 2024;54:300-350. [PMID: 39091537 PMCID: PMC11293310 DOI: 10.1177/00811750241236482] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 08/04/2024]
37
Li L, Comi TJ, Bierman RF, Akey JM. Recurrent gene flow between Neanderthals and modern humans over the past 200,000 years. Science 2024;385:eadi1768. [PMID: 38991054 DOI: 10.1126/science.adi1768] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/05/2023] [Accepted: 05/14/2024] [Indexed: 07/13/2024]
38
Saifullah, Ma Z, Li M, Maqbool MQ, Chen J. Enhancing telehealth services development in Pakistani healthcare sectors through examining various medical service quality characteristics. Front Public Health 2024;12:1376534. [PMID: 39045155 PMCID: PMC11263101 DOI: 10.3389/fpubh.2024.1376534] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/25/2024] [Accepted: 06/03/2024] [Indexed: 07/25/2024]  Open
39
Mavillard F, Perez-Florido J, Ortuño FM, Valladares A, Álvarez-Villegas ML, Roldán G, Carmona R, Soriano M, Susarte S, Fuentes P, López-López D, Nuñez-Negrillo AM, Carvajal A, Morgado Y, Arteaga D, Ufano R, Mir P, Gamella JF, Dopazo J, Paradas C, Cabrera-Serrano M. The Iberian Roma Population Variant Server (IRPVS). J Genet Genomics 2024;51:769-773. [PMID: 38548101 DOI: 10.1016/j.jgg.2024.03.006] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2023] [Revised: 03/01/2024] [Accepted: 03/17/2024] [Indexed: 05/06/2024]
40
Parsons BL, Beal MA, Dearfield KL, Douglas GR, Gi M, Gollapudi BB, Heflich RH, Horibata K, Kenyon M, Long AS, Lovell DP, Lynch AM, Myers MB, Pfuhler S, Vespa A, Zeller A, Johnson GE, White PA. Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT). ENVIRONMENTAL AND MOLECULAR MUTAGENESIS 2024. [PMID: 38828778 DOI: 10.1002/em.22599] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 12/21/2023] [Revised: 03/13/2024] [Accepted: 04/15/2024] [Indexed: 06/05/2024]
41
Yin R, Gutierrez A, Kobren SN, Avillach P. VarPPUD: Variant post prioritization developed for undiagnosed genetic disorders. MEDRXIV : THE PREPRINT SERVER FOR HEALTH SCIENCES 2024:2024.04.15.24305876. [PMID: 38699371 PMCID: PMC11065012 DOI: 10.1101/2024.04.15.24305876] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/05/2024]
42
Murga-Moreno J, Casillas S, Barbadilla A, Uricchio L, Enard D. An efficient and robust ABC approach to infer the rate and strength of adaptation. G3 (BETHESDA, MD.) 2024;14:jkae031. [PMID: 38365205 PMCID: PMC11090462 DOI: 10.1093/g3journal/jkae031] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/10/2023] [Revised: 10/10/2023] [Accepted: 01/29/2024] [Indexed: 02/18/2024]
43
Song H, Chu J, Li W, Li X, Fang L, Han J, Zhao S, Ma Y. A Novel Approach Utilizing Domain Adversarial Neural Networks for the Detection and Classification of Selective Sweeps. ADVANCED SCIENCE (WEINHEIM, BADEN-WURTTEMBERG, GERMANY) 2024;11:e2304842. [PMID: 38308186 PMCID: PMC11005742 DOI: 10.1002/advs.202304842] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/17/2023] [Revised: 01/10/2024] [Indexed: 02/04/2024]
44
Popova L, Carabetta VJ. The use of next-generation sequencing in personalized medicine. ARXIV 2024:arXiv:2403.03688v1. [PMID: 38495572 PMCID: PMC10942477] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Subscribe] [Scholar Register] [Indexed: 03/19/2024]
45
Takahashi K, Yachida N, Tamura R, Adachi S, Kondo S, Abé T, Umezu H, Nyuzuki H, Okuda S, Nakaoka H, Yoshihara K. Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H. Genes Chromosomes Cancer 2024;63:e23231. [PMID: 38459936 DOI: 10.1002/gcc.23231] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2023] [Revised: 02/06/2024] [Accepted: 02/20/2024] [Indexed: 03/11/2024]  Open
46
Chen CL, Lee NC, Chien YH, Hwu WL, Hung MZ, Lin YL, Lin SY, Lee CN. Ethnically unique disease burden and limitations of current expanded carrier screening panels. Int J Gynaecol Obstet 2024;164:918-924. [PMID: 37681470 DOI: 10.1002/ijgo.15072] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2023] [Revised: 07/28/2023] [Accepted: 08/17/2023] [Indexed: 09/09/2023]
47
Buffalo V, Kern AD. A quantitative genetic model of background selection in humans. PLoS Genet 2024;20:e1011144. [PMID: 38507461 PMCID: PMC10984650 DOI: 10.1371/journal.pgen.1011144] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/17/2023] [Revised: 04/01/2024] [Accepted: 01/19/2024] [Indexed: 03/22/2024]  Open
48
Zhang M, Gong C, Ge F, Yu DJ. FCMSTrans: Accurate Prediction of Disease-Associated nsSNPs by Utilizing Multiscale Convolution and Deep Feature Combination within a Transformer Framework. J Chem Inf Model 2024;64:1394-1406. [PMID: 38349747 DOI: 10.1021/acs.jcim.3c02025] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/27/2024]
49
Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CM, Shaw CA, Posey JE, Valle D, Lupski JR. The impact of the Turkish population variome on the genomic architecture of rare disease traits. GENETICS IN MEDICINE OPEN 2024;2:101830. [PMID: 39669594 PMCID: PMC11613692 DOI: 10.1016/j.gimo.2024.101830] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/28/2023] [Revised: 02/03/2024] [Accepted: 02/07/2024] [Indexed: 12/14/2024]
50
Pandey P, Alexov E. Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy. Int J Mol Sci 2024;25:1963. [PMID: 38396641 PMCID: PMC10888012 DOI: 10.3390/ijms25041963] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/29/2023] [Revised: 01/31/2024] [Accepted: 02/02/2024] [Indexed: 02/25/2024]  Open
PrevPage 1 of 26 123452526Next
© 2004-2025 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Excel