Home The Word Brain	My Amedeo FAQ Privacy About
	Amedeo Chinese For Medical Students & Physicians A complete 20-lesson, 300-page Chinese course with a companion app in 21 languages — free forever. Download the free PDF: Amedeo Chinese PDF

Genetics

Free Subscription Articles published in Am J Hum Genet Retrieve available abstracts of 120 articles: HTML format

Single Articles

June 2026
1. LAUB S, Tulina N, Hoffman M, Faryean JB, et al
   Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14.
   Am J Hum Genet. 2026;113:1253-1278.
   PubMed     Abstract available
   
   
   
2. GARG P, Jadhav B, Shadrina M, Martin-Trujillo A, et al
   A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.
   Am J Hum Genet. 2026;113:1297-1318.
   PubMed     Abstract available
   
   
   
3. EVERTON Z, Botas J, Kim SY, Yao L, et al
   MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering.
   Am J Hum Genet. 2026;113:1194-1213.
   PubMed     Abstract available
   
   
   
4. FONT-PORTERIAS N, Nemat-Gorgani N, Kichula KM, Al-Hindi DR, et al
   Signatures of pathogen-driven selection and Austronesian gene flow of Papua New Guinea HLA alleles.
   Am J Hum Genet. 2026;113:1175-1193.
   PubMed     Abstract available
   
   
   
5. LEWIS ACF, Clayton EW, Bangash H, Bland HT, et al
   Navigating data sharing in research.
   Am J Hum Genet. 2026;113:1159-1167.
   PubMed     Abstract available
   
   
   May 2026
6. WEISBURD B, Dolzhenko E, Bennett MF, Danzi MC, et al
   Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.
   Am J Hum Genet. 2026;113:915-928.
   PubMed     Abstract available
   
   
   
7. CORREDOR JL, Li R, Dodd-Eaton EB, Casey J, et al
   Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.
   Am J Hum Genet. 2026;113:1024-1035.
   PubMed     Abstract available
   
   
   
8. SAPP JC, Lewis KL, Modlin EW, Davidson A, et al
   Measuring disease likelihood in genomic ascertainment.
   Am J Hum Genet. 2026;113:978-989.
   PubMed     Abstract available
   
   
   April 2026
9. LIMDI N, Beasley TM, Cortopassi J, Davis B, et al
   The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.
   Am J Hum Genet. 2026;113:664-677.
   PubMed     Abstract available
   
   
   
10. LAWSON LP, Prows CA, Cortopassi J, Davis KW, et al
    Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study.
    Am J Hum Genet. 2026;113:678-691.
    PubMed     Abstract available
    
    
    
11. BARTELL E, Lin K, Tsuo K, Gan W, et al
    Genetics of skeletal proportions across two different populations.
    Am J Hum Genet. 2026;113:794-808.
    PubMed     Abstract available
    
    
    March 2026
12. LI J, Morrison J
    Mind the gap: Characterizing bias due to population mismatch in two-sample Mendelian randomization.
    Am J Hum Genet. 2026;113:483-493.
    PubMed     Abstract available
    
    
    
13. TALKOWSKI ME
    2025 ASHG Scientific Achievement Award: Decoding the genome-From structure to development to the promise of precision medicine.
    Am J Hum Genet. 2026;113:416-423.
    PubMed     Abstract available
    
    
    
14. TISHKOFF SA
    2025 ASHG presidential address: Stronger together: Advancing human genetics through the power of community.
    Am J Hum Genet. 2026;113:405-412.
    PubMed     Abstract available
    
    
    
15. NISSELLE A, Liddicoat D, Cliffe C, Gallacher L, et al
    Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and education.
    Am J Hum Genet. 2026;113:428-436.
    PubMed     Abstract available
    
    
    February 2026
16. RASHID AI, Rincon NA, Rihani N, Wagner JK, et al
    Competition in human genetic technologies: The current US legal landscape.
    Am J Hum Genet. 2026;113:237-246.
    PubMed     Abstract available
    
    
    January 2026
17. REKERLE L, Danis D, Rehburg F, Graefe ASL, et al
    GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
    Am J Hum Genet. 2026;113:57-70.
    PubMed     Abstract available
    
    
    
18. LI Q, Song Q, Chen Z, Choi J, et al
    Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.
    Am J Hum Genet. 2026;113:41-56.
    PubMed     Abstract available
    
    
    December 2025
19. 
    Collaborative science in genomics: The value of data sharing and thoughtful stewardship.
    Am J Hum Genet. 2025;112:2819-2821.
    PubMed     Abstract available
    
    
    
20. XUE D, Blue EE, Fullerton SM, Henrikson NB, et al
    Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field.
    Am J Hum Genet. 2025;112:2860-2869.
    PubMed     Abstract available
    
    
    
21. SOUILMI Y, Oliva A, Davidson R, Williams MP, et al
    Lessons learned: Recommendations for reproducible paleogenomic data analyses.
    Am J Hum Genet. 2025;112:2830-2841.
    PubMed     Abstract available
    
    
    
22. TIBBEN BM, Gaedigk A, Gong L, Sangkuhl K, et al
    The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function.
    Am J Hum Genet. 2025;112:2842-2859.
    PubMed     Abstract available
    
    
    
23. MEJIA-GARCIA A, Diaz-Papkovich A, Sillon G, D'Agostino D, et al
    Using the ancestral recombination graph to study the history of rare variants in founder populations.
    Am J Hum Genet. 2025;112:2973-2981.
    PubMed     Abstract available
    
    
    November 2025
24. 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
    
    
    
25. 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
    
    
    
26. 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
27. 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
    
    
    
28. 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
29. 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
    
    
    
30. 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
    
    
    
31. 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
32. 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
    
    
    
33. 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
    
    
    
34. 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
    
    
    
35. 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
    
    
    
36. 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
    
    
    
37. 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
38. 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
    
    
    
39. 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
    
    
    
40. 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
    
    
    
41. 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
42. 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
    
    
    
43. 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
44. 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
    
    
    
45. 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
    
    
    
46. 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
47. 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
    
    
    
48. 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
49. MORTON CC
    2024 ASHG Leadership Award.
    Am J Hum Genet. 2025;112:478-480.
    PubMed     Abstract available
    
    
    
50. AHITUV N
    2024 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2025;112:473-477.
    PubMed     Abstract available
    
    
    
51. PERICAK-VANCE MA
    2024 ASHG Lifetime Achievement Award.
    Am J Hum Genet. 2025;112:470-472.
    PubMed     Abstract available
    
    
    
52. 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
    
    
    
53. 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
    
    
    
54. 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
55. 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
    
    
    
56. 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
    
    
    
57. 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
    
    
    
58. 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
    
    
    
59. 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
    
    
    
60. 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
61. 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
    
    
    
62. 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
63. 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
    
    
    
64. 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
    
    
    
65. 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
66. 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
    
    
    
67. 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
    
    
    
68. 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
69. 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
    
    
    
70. 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
    
    
    
71. 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
    
    
    
72. 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
73. 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    
    
    
    
74. 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
    
    
    
75. 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
    
    
    
76. 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
77. 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
    
    
    
78. 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
79. MIGA KH
    From complete genomes to pangenomes.
    Am J Hum Genet. 2024;111:1265-1268.
    PubMed     Abstract available
    
    
    
80. 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
    
    
    
81. MORTON CC
    Exploring the noncoding genome with chromosomal structural rearrangements.
    Am J Hum Genet. 2024;111:1258-1260.
    PubMed     Abstract available
    
    
    
82. RUTHERFORD A
    Eugenics and the misuse of Mendel.
    Am J Hum Genet. 2024;111:1254-1257.
    PubMed     Abstract available
    
    
    
83. 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
    
    
    
84. 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
85. 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
    
    
    
86. 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
87. 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
    
    
    
88. 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
    
    
    
89. 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
90. COX NJ
    2023 ASHG Leadership Award.
    Am J Hum Genet. 2024;111:429-432.
    PubMed     Abstract available
    
    
    
91. BOEHNKE M
    2023 ASHG Leadership Award: Nancy Cox.
    Am J Hum Genet. 2024;111:428.
    PubMed     Abstract available
    
    
    
92. PRZEWORSKI M
    2023 ASHG Scientific Achievement Award.
    Am J Hum Genet. 2024;111:425-427.
    PubMed     Abstract available
    
    
    
93. SHENDURE J
    2023 ASHG Scientific Achievement Award: Molly Przeworski.
    Am J Hum Genet. 2024;111:424.
    PubMed     Abstract available
    
    
    
94. KLEIN O
    2023 ASHG Lifetime Achievement Award: Neil Risch.
    Am J Hum Genet. 2024;111:410-411.
    PubMed     Abstract available
    
    
    
95. 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
    
    
    
96. 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
    
    
    
97. 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
98. 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
99. 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
    
    
    
100. 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
101. 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
     
     
     
102. 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
     
     
     
103. 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
104. 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
     
     
     
105. 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
     
     
     
106. 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
107. 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
     
     
     
108. 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
109. 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
     
     
     
110. 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
111. 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
     
     
     
112. 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
113. 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
     
     
     
114. 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
     
     
     
115. 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
116. 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
117. 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
118. 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
     
     
     
119. 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
     
     
     
120. 
     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
     
     

Thank you for your interest in scientific medicine.

AMEDEO Genetics is free of charge. Privacy / Datenschutzerklärung | Imprint / Impressum