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  Genetics

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Articles published in Am J Hum Genet

Retrieve available abstracts of 97 articles:
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Single Articles


    November 2025
  1. TORENE RI, Murphy KM, Brandt T, Kelly MA, et al
    A scalable approach for genomic-first rare disorder detection in a healthcare-based population.
    Am J Hum Genet. 2025;112:2565-2577.
    PubMed     Abstract available


  2. SINGH A, Alarcon C, Nutescu EA, O'Brien TJ, et al
    Local ancestry-informed GWAS of warfarin dose requirement in African Americans identifies a CYP2C19 splicing QTL.
    Am J Hum Genet. 2025;112:2708-2719.
    PubMed     Abstract available


  3. LIU J, Zhou Z, Chen Y, Islam MT, et al
    Unveiling tissue heterogeneity through genomic interaction-encoded image representation of RNA-sequencing data.
    Am J Hum Genet. 2025;112:2739-2750.
    PubMed     Abstract available


    October 2025
  4. 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


  5. 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
  6. 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


  7. 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


  8. 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
  9. 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


  10. 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


  11. 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


  12. 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


  13. 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


  14. 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
  15. 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


  16. 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


  17. 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


  18. 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
  19. 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


  20. 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
  21. 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


  22. 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


  23. 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
  24. 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


  25. 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
  26. MORTON CC
    2024 ASHG Leadership Award.
    Am J Hum Genet. 2025;112:478-480.
    PubMed     Abstract available


  27. AHITUV N
    2024 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2025;112:473-477.
    PubMed     Abstract available


  28. PERICAK-VANCE MA
    2024 ASHG Lifetime Achievement Award.
    Am J Hum Genet. 2025;112:470-472.
    PubMed     Abstract available


  29. 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


  30. 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


  31. 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
  32. 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


  33. 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


  34. 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


  35. 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


  36. 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


  37. 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
  38. 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


  39. 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
  40. 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


  41. 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


  42. 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
  43. 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


  44. 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


  45. 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
  46. 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


  47. 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


  48. 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


  49. 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
  50. 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    


  51. 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


  52. 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


  53. 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
  54. 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


  55. 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
  56. MIGA KH
    From complete genomes to pangenomes.
    Am J Hum Genet. 2024;111:1265-1268.
    PubMed     Abstract available


  57. 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


  58. MORTON CC
    Exploring the noncoding genome with chromosomal structural rearrangements.
    Am J Hum Genet. 2024;111:1258-1260.
    PubMed     Abstract available


  59. RUTHERFORD A
    Eugenics and the misuse of Mendel.
    Am J Hum Genet. 2024;111:1254-1257.
    PubMed     Abstract available


  60. 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


  61. 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
  62. 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


  63. 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
  64. 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


  65. 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


  66. 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
  67. COX NJ
    2023 ASHG Leadership Award.
    Am J Hum Genet. 2024;111:429-432.
    PubMed     Abstract available


  68. BOEHNKE M
    2023 ASHG Leadership Award: Nancy Cox.
    Am J Hum Genet. 2024;111:428.
    PubMed     Abstract available


  69. PRZEWORSKI M
    2023 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2024;111:425-427.
    PubMed     Abstract available


  70. SHENDURE J
    2023 ASHG Scientific Achievement Award: Molly Przeworski.
    Am J Hum Genet. 2024;111:424.
    PubMed     Abstract available


  71. KLEIN O
    2023 ASHG Lifetime Achievement Award: Neil Risch.
    Am J Hum Genet. 2024;111:410-411.
    PubMed     Abstract available


  72. 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


  73. 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


  74. 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
  75. 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
  76. 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


  77. 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
  78. 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


  79. 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


  80. 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
  81. 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


  82. 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


  83. 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
  84. 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


  85. 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
  86. 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


  87. 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
  88. 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


  89. 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
  90. 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


  91. 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


  92. 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
  93. 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
  94. 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
  95. 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


  96. 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



  97. 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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