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Genetics

Free Subscription Articles published in Am J Hum Genet Retrieve available abstracts of 94 articles: HTML format

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October 2025
1. REYNOLDS AW, Schurz H, Meeks G, Gravel S, et al
   The Indian Ocean slave trade and colonial expansion resulted in strong sex-biased admixture in South Africa.
   Am J Hum Genet. 2025;112:2520-2537.
   PubMed     Abstract available
   
   
   
2. DIAS JA, Chen T, Xing H, Wang X, et al
   Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications.
   Am J Hum Genet. 2025;112:2493-2508.
   PubMed     Abstract available
   
   
   September 2025
3. BROWNING SR, Browning BL
   Estimating gene conversion rates from population data using multi-individual identity by descent.
   Am J Hum Genet. 2025;112:2167-2177.
   PubMed     Abstract available
   
   
   
4. SCHRAIBER JG, Spence JP, Edge MD
   Estimation of demography and mutation rates from one million haploid genomes.
   Am J Hum Genet. 2025;112:2152-2166.
   PubMed     Abstract available
   
   
   
5. BAKER J, Stricker E, Coleman J, Ketkar S, et al
   Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench.
   Am J Hum Genet. 2025;112:2001-2009.
   PubMed     Abstract available
   
   
   August 2025
6. SEAGLE HM, Akerele AT, DeCorte JA, Hellwege JN, et al
   Genomics-informed drug-repurposing strategy identifies two therapeutic targets for preventing liver disease associated with metabolic dysfunction.
   Am J Hum Genet. 2025;112:1778-1791.
   PubMed     Abstract available
   
   
   
7. TANG J, Chiang CWK
   A genealogy-based approach for revealing ancestry-specific structures in admixed populations.
   Am J Hum Genet. 2025;112:1906-1922.
   PubMed     Abstract available
   
   
   
8. BHAT V, Yu T, Brown L, Pejaver V, et al
   Extracting and calibrating evidence of variant pathogenicity from population biobank data.
   Am J Hum Genet. 2025;112:1805-1817.
   PubMed     Abstract available
   
   
   
9. ZHOU G, Yolou I, Xie Y, Zhao H, et al
   Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations.
   Am J Hum Genet. 2025;112:1923-1935.
   PubMed     Abstract available
   
   
   
10. LIU Y, Liu M, Yang Y, Cao L, et al
    Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors.
    Am J Hum Genet. 2025;112:1864-1876.
    PubMed     Abstract available
    
    
    
11. SMITH JL, Wong Q, Hornsby W, Conomos MP, et al
    Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking.
    Am J Hum Genet. 2025;112:1754-1768.
    PubMed     Abstract available
    
    
    July 2025
12. RAI A, Klonowski J, Yuan B, Coveler KJ, et al
    Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
    Am J Hum Genet. 2025;112:1664-1680.
    PubMed     Abstract available
    
    
    
13. KHAN AT, Adebamowo C, Fullerton SM, Hirbo J, et al
    A data model for population descriptors in genomic research.
    Am J Hum Genet. 2025;112:1504-1514.
    PubMed     Abstract available
    
    
    
14. PETERS R, Best S, Lynch F, Vears DF, et al
    Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.
    Am J Hum Genet. 2025;112:1515-1527.
    PubMed     Abstract available
    
    
    
15. PALAFOX MF, Boatner L, Wilde BR, Christofk H, et al
    Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.
    Am J Hum Genet. 2025;112:1649-1663.
    PubMed     Abstract available
    
    
    June 2025
16. GOUVEIA MH, Meeks KAC, Borda V, Leal TP, et al
    Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research.
    Am J Hum Genet. 2025;112:1286-1301.
    PubMed     Abstract available
    
    
    
17. GOLDIN MR, Ruderfer DM, Bick A, Roden DM, et al
    Benefits and barriers to broad implementation of genomic sequencing in the NICU.
    Am J Hum Genet. 2025;112:1270-1285.
    PubMed     Abstract available
    
    
    May 2025
18. ROBERTS KJ, Ogbagiorgis W, Sy A, Williams-Blangero S, et al
    Increasing the genomic workforce through research capacity building: Designing evaluation plans for maximum impact.
    Am J Hum Genet. 2025;112:967-974.
    PubMed     Abstract available
    
    
    
19. LANTING P, Warmerdam R, Slager J, Brugge H, et al
    Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays.
    Am J Hum Genet. 2025;112:1015-1028.
    PubMed     Abstract available
    
    
    
20. YANG Z, Wang C, Posadas-Garcia YS, Anorve-Garibay V, et al
    Fine-mapping in admixed populations using CARMA-X, with applications to Latin American studies.
    Am J Hum Genet. 2025;112:1215-1232.
    PubMed     Abstract available
    
    
    April 2025
21. SUN Q, Horimoto ARVR, Chen B, Ockerman F, et al
    Opportunities and challenges of local ancestry in genetic association analyses.
    Am J Hum Genet. 2025;112:727-740.
    PubMed     Abstract available
    
    
    
22. HOWLEY C, Haas MA, Al Muftah WA, Annan RB, et al
    The expanding global genomics landscape: Converging priorities from national genomics programs.
    Am J Hum Genet. 2025;112:751-763.
    PubMed     Abstract available
    
    
    March 2025
23. MORTON CC
    2024 ASHG Leadership Award.
    Am J Hum Genet. 2025;112:478-480.
    PubMed     Abstract available
    
    
    
24. AHITUV N
    2024 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2025;112:473-477.
    PubMed     Abstract available
    
    
    
25. PERICAK-VANCE MA
    2024 ASHG Lifetime Achievement Award.
    Am J Hum Genet. 2025;112:470-472.
    PubMed     Abstract available
    
    
    
26. LUPSKI JR
    2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and disease susceptibility.
    Am J Hum Genet. 2025;112:467-469.
    PubMed     Abstract available
    
    
    
27. GELB BD
    2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency.
    Am J Hum Genet. 2025;112:461-466.
    PubMed     Abstract available
    
    
    
28. HATCHELL KE, Poll SR, Russell EM, Williams TJ, et al
    Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.
    Am J Hum Genet. 2025;112:481-491.
    PubMed     Abstract available
    
    
    February 2025
29. FORTES-LIMA CA, Diallo MY, Janousek V, Cerny V, et al
    Population history and admixture of the Fulani people from the Sahel.
    Am J Hum Genet. 2025;112:261-275.
    PubMed     Abstract available
    
    
    
30. SCALICI A, Miller-Fleming TW, Shuey MM, Baker JT, et al
    Gene and phenome-based analysis of the shared genetic architecture of eye diseases.
    Am J Hum Genet. 2025;112:318-331.
    PubMed     Abstract available
    
    
    
31. STONEMAN HR, Price AM, Trout NS, Lamont R, et al
    Characterizing substructure via mixture modeling in large-scale genetic summary statistics.
    Am J Hum Genet. 2025;112:235-253.
    PubMed     Abstract available
    
    
    
32. JAKUBEK YA, Ma X, Stilp AM, Yu F, et al
    Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.
    Am J Hum Genet. 2025;112:276-290.
    PubMed     Abstract available
    
    
    
33. FANG L, Xue H, Lin Z, Pan W, et al
    Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease.
    Am J Hum Genet. 2025;112:291-300.
    PubMed     Abstract available
    
    
    
34. HONORATO-MAUER J, Shah NN, Maihofer AX, Zai CC, et al
    Characterizing features affecting local ancestry inference performance in admixed populations.
    Am J Hum Genet. 2025;112:224-234.
    PubMed     Abstract available
    
    
    January 2025
35. SCHMITZ MJ, Bashar A, Soman V, Nkrumah EAF, et al
    Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.
    Am J Hum Genet. 2025;112:181-195.
    PubMed     Abstract available
    
    
    
36. HOVHANNISYAN A, Delser PM, Hakobyan A, Jones ER, et al
    Demographic history and genetic variation of the Armenian population.
    Am J Hum Genet. 2025;112:11-27.
    PubMed     Abstract available
    
    
    December 2024
37. RAMOS MA, Bonini KE, Scarimbolo L, Kelly NR, et al
    Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
    Am J Hum Genet. 2024;111:2607-2617.
    PubMed     Abstract available
    
    
    
38. SAITOU M, Dahl A, Wang Q, Liu X, et al
    Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines.
    Am J Hum Genet. 2024;111:2814-2825.
    PubMed     Abstract available
    
    
    
39. YAO S, Li K, Li T, Yu X, et al
    GPS-Net: Discovering prognostic pathway modules based on network regularized kernel learning.
    Am J Hum Genet. 2024;111:2826-2838.
    PubMed     Abstract available
    
    
    November 2024
40. IBEH N, Kusuma P, Crenna Darusallam C, Malik SG, et al
    Profiling genetically driven alternative splicing across the Indonesian archipelago.
    Am J Hum Genet. 2024;111:2458-2477.
    PubMed     Abstract available
    
    
    
41. TEMPLE SD, Waples RK, Browning SR
    Modeling recent positive selection using identity-by-descent segments.
    Am J Hum Genet. 2024;111:2510-2529.
    PubMed     Abstract available
    
    
    
42. YIN X, Richardson M, Laner A, Shi X, et al
    Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
    Am J Hum Genet. 2024;111:2427-2443.
    PubMed     Abstract available
    
    
    October 2024
43. GAYE A, Sene ARG, Gadji M, Deme A, et al
    Toward building a comprehensive human pan-genome: The SEN-GENOME project.
    Am J Hum Genet. 2024;111:2074-2078.
    PubMed     Abstract available
    
    
    
44. MAJEED S, Johnston C, Saeedi S, Mighton C, et al
    International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.
    Am J Hum Genet. 2024;111:2079-2093.
    PubMed     Abstract available
    
    
    
45. SMITH HS, Zettler B, Genetti CA, Hickingbotham MR, et al
    The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
    Am J Hum Genet. 2024;111:2094-2106.
    PubMed     Abstract available
    
    
    
46. SHYR D, Dey R, Li X, Zhou H, et al
    Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies.
    Am J Hum Genet. 2024;111:2129-2138.
    PubMed     Abstract available
    
    
    September 2024
47. KOZLOWSKI E, Ginsburg GS, Korf BR
    A new annual feature of AJHG: All of Us Research Program year in review.
    Am J Hum Genet. 2024;111:1797.
    PubMed    
    
    
    
48. PARSONS MT, de la Hoya M, Richardson ME, Tudini E, et al
    Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
    Am J Hum Genet. 2024;111:2044-2058.
    PubMed     Abstract available
    
    
    
49. ABOOD A, Mesner LD, Jeffery ED, Murali M, et al
    Long-read proteogenomics to connect disease-associated sQTLs to the protein isoform effectors of disease.
    Am J Hum Genet. 2024;111:1914-1931.
    PubMed     Abstract available
    
    
    
50. HU T, Parrish RL, Dai Q, Buchman AS, et al
    Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia.
    Am J Hum Genet. 2024;111:1848-1863.
    PubMed     Abstract available
    
    
    August 2024
51. NISSELLE A, Terrill B, Janinski M, Metcalfe S, et al
    Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations.
    Am J Hum Genet. 2024;111:1508-1523.
    PubMed     Abstract available
    
    
    
52. NISSELLE A, Terrill B, Janinski M, Martyn M, et al
    Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework.
    Am J Hum Genet. 2024;111:1497-1507.
    PubMed     Abstract available
    
    
    July 2024
53. MIGA KH
    From complete genomes to pangenomes.
    Am J Hum Genet. 2024;111:1265-1268.
    PubMed     Abstract available
    
    
    
54. MARTINI R, Davis MB
    The DARC side of genetics in cancer: Breast cancer disparities.
    Am J Hum Genet. 2024;111:1261-1264.
    PubMed     Abstract available
    
    
    
55. MORTON CC
    Exploring the noncoding genome with chromosomal structural rearrangements.
    Am J Hum Genet. 2024;111:1258-1260.
    PubMed     Abstract available
    
    
    
56. RUTHERFORD A
    Eugenics and the misuse of Mendel.
    Am J Hum Genet. 2024;111:1254-1257.
    PubMed     Abstract available
    
    
    
57. SAWCHUK EA, Sirak KA, Manthi FK, Ndiema EK, et al
    Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa.
    Am J Hum Genet. 2024;111:1243-1251.
    PubMed     Abstract available
    
    
    
58. UNGAR RA, Goddard PC, Jensen TD, Degalez F, et al
    Impact of genome build on RNA-seq interpretation and diagnostics.
    Am J Hum Genet. 2024;111:1282-1300.
    PubMed     Abstract available
    
    
    June 2024
59. XU ZM, Gnouamozi GE, Rueger S, Shea PR, et al
    Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation.
    Am J Hum Genet. 2024;111:1018-1034.
    PubMed     Abstract available
    
    
    
60. DARENG EO, Coetzee SG, Tyrer JP, Peng PC, et al
    Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.
    Am J Hum Genet. 2024;111:1061-1083.
    PubMed     Abstract available
    
    
    May 2024
61. WANG Y, He Y, Shi Y, Qian DC, et al
    Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.
    Am J Hum Genet. 2024;111:809-824.
    PubMed     Abstract available
    
    
    
62. COHEN ASA, Berrios CD, Zion TN, Barrett CM, et al
    Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
    Am J Hum Genet. 2024;111:825-832.
    PubMed     Abstract available
    
    
    
63. CAHOON JL, Rui X, Tang E, Simons C, et al
    Imputation accuracy across global human populations.
    Am J Hum Genet. 2024;111:979-989.
    PubMed     Abstract available
    
    
    March 2024
64. COX NJ
    2023 ASHG Leadership Award.
    Am J Hum Genet. 2024;111:429-432.
    PubMed     Abstract available
    
    
    
65. BOEHNKE M
    2023 ASHG Leadership Award: Nancy Cox.
    Am J Hum Genet. 2024;111:428.
    PubMed     Abstract available
    
    
    
66. PRZEWORSKI M
    2023 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2024;111:425-427.
    PubMed     Abstract available
    
    
    
67. SHENDURE J
    2023 ASHG Scientific Achievement Award: Molly Przeworski.
    Am J Hum Genet. 2024;111:424.
    PubMed     Abstract available
    
    
    
68. KLEIN O
    2023 ASHG Lifetime Achievement Award: Neil Risch.
    Am J Hum Genet. 2024;111:410-411.
    PubMed     Abstract available
    
    
    
69. LEE B
    2023 ASHG presidential address-Reflecting on our 75 years: Acknowledging our past, embracing our present, and dreaming about our future.
    Am J Hum Genet. 2024;111:407-409.
    PubMed     Abstract available
    
    
    
70. ZHANG J, Pandey M, Awe A, Lue N, et al
    The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function.
    Am J Hum Genet. 2024;111:473-486.
    PubMed     Abstract available
    
    
    
71. ALLEN CG, Hunt KJ, McMahon LL, Thornhill C, et al
    Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
    Am J Hum Genet. 2024;111:433-444.
    PubMed     Abstract available
    
    
    February 2024
72. WANG X, Kostrzewa C, Reiner A, Shen R, et al
    Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways.
    Am J Hum Genet. 2024;111:227-241.
    PubMed     Abstract available
    
    
    January 2024
73. WILEY LK, Shortt JA, Roberts ER, Lowery J, et al
    Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
    Am J Hum Genet. 2024;111:11-23.
    PubMed     Abstract available
    
    
    
74. FOWLER DM, Rehm HL
    Will variants of uncertain significance still exist in 2030?
    Am J Hum Genet. 2024;111:5-10.
    PubMed     Abstract available
    
    
    December 2023
75. LINK V, Schraiber JG, Fan C, Dinh B, et al
    Tree-based QTL mapping with expected local genetic relatedness matrices.
    Am J Hum Genet. 2023;110:2077-2091.
    PubMed     Abstract available
    
    
    
76. SUCKIEL SA, Kelly NR, Odgis JA, Gallagher KM, et al
    The NYCKidSeq randomized controlled trial: Impact of GUIA digitally enhanced genetic results disclosure in diverse families.
    Am J Hum Genet. 2023;110:2029-2041.
    PubMed     Abstract available
    
    
    
77. GEORGE SHL, Medina-Rivera A, Idaghdour Y, Lappalainen T, et al
    Increasing diversity of functional genetics studies to advance biological discovery and human health.
    Am J Hum Genet. 2023;110:1996-2002.
    PubMed     Abstract available
    
    
    November 2023
78. MIGA KH, Eichler EE
    Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes.
    Am J Hum Genet. 2023;110:1832-1840.
    PubMed     Abstract available
    
    
    
79. GUNTER C, Green ED
    To boldly go: Unpacking the NHGRI's bold predictions for human genomics by 2030.
    Am J Hum Genet. 2023;110:1829-1831.
    PubMed     Abstract available
    
    
    
80. CHAN TF, Rui X, Conti DV, Fornage M, et al
    Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics.
    Am J Hum Genet. 2023;110:1853-1862.
    PubMed     Abstract available
    
    
    October 2023
81. MEDINA-MUNOZ SG, Ortega-Del Vecchyo D, Cruz-Hervert LP, Ferreyra-Reyes L, et al
    Demographic modeling of admixed Latin American populations from whole genomes.
    Am J Hum Genet. 2023;110:1804-1816.
    PubMed     Abstract available
    
    
    
82. LI B, Sangkuhl K, Whaley R, Woon M, et al
    Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank.
    Am J Hum Genet. 2023;110:1628-1647.
    PubMed     Abstract available
    
    
    September 2023
83. MIAO L, Jiang L, Tang B, Sham PC, et al
    Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability.
    Am J Hum Genet. 2023;110:1534-1548.
    PubMed     Abstract available
    
    
    
84. BASTARACHE L, Delozier S, Pandit A, He J, et al
    The phenotype-genotype reference map: Improving biobank data science through replication.
    Am J Hum Genet. 2023;110:1522-1533.
    PubMed     Abstract available
    
    
    August 2023
85. TIAN Y, Dong D, Wang Z, Wu L, et al
    Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression.
    Am J Hum Genet. 2023;110:1289-1303.
    PubMed     Abstract available
    
    
    
86. PETTER E, Ding Y, Hou K, Bhattacharya A, et al
    Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring.
    Am J Hum Genet. 2023;110:1319-1329.
    PubMed     Abstract available
    
    
    July 2023
87. WALKER LC, Hoya M, Wiggins GAR, Lindy A, et al
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
    Am J Hum Genet. 2023;110:1046-1067.
    PubMed     Abstract available
    
    
    
88. CLAYTON EW, Smith ME, Anderson KC, Chung WK, et al
    Studying the impact of translational genomic research: Lessons from eMERGE.
    Am J Hum Genet. 2023;110:1021-1033.
    PubMed     Abstract available
    
    
    
89. GREEN RC, Shah N, Genetti CA, Yu T, et al
    Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
    Am J Hum Genet. 2023;110:1034-1045.
    PubMed     Abstract available
    
    
    June 2023
90. MESTER R, Hou K, Ding Y, Meeks G, et al
    Impact of cross-ancestry genetic architecture on GWASs in admixed populations.
    Am J Hum Genet. 2023;110:927-939.
    PubMed     Abstract available
    
    
    May 2023
91. DANIELS RJ, D'Amato ME, Lesaoana M, Kasu M, et al
    Genetic heritage of the Baphuthi highlights an over-ethnicized notion of "Bushman" in the Maloti-Drakensberg, southern Africa.
    Am J Hum Genet. 2023;110:880-894.
    PubMed     Abstract available
    
    
    March 2023
92. STARK Z, Boughtwood T, Haas M, Braithwaite J, et al
    Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
    Am J Hum Genet. 2023;110:419-426.
    PubMed     Abstract available
    
    
    
93. JACKSON CS, Turner D, June M, Miller MV, et al
    Facing Our History-Building an Equitable Future.
    Am J Hum Genet. 2023;110:377-395.
    PubMed     Abstract available
    
    
    
94. 
    On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative.
    Am J Hum Genet. 2023;110:375-376.
    PubMed     Abstract available
    
    

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