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Articles published in Am J Hum Genet

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Single Articles

    November 2023
  1. 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

  2. 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

  3. 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
  4. 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

  5. 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
  6. 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

  7. 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
  8. 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

  9. 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
  10. 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

  11. 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

  12. 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
  13. 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
  14. 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
  15. 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

  16. 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

  17. 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

    February 2023
  18. PFENNIG A, Lachance J
    Challenges of accurately estimating sex-biased admixture from X chromosomal and autosomal ancestry proportions.
    Am J Hum Genet. 2023;110:359-367.
    PubMed     Abstract available

  19. ZAMARIOLLI M, Auwerx C, Sadler MC, van der Graaf A, et al
    The impact of 22q11.2 copy-number variants on human traits in the general population.
    Am J Hum Genet. 2023;110:300-313.
    PubMed     Abstract available

  20. DO WL, Sun D, Meeks K, Dugue PA, et al
    Epigenome-wide meta-analysis of BMI in nine cohorts: Examining the utility of epigenetically predicted BMI.
    Am J Hum Genet. 2023;110:273-283.
    PubMed     Abstract available

  21. ABDELLAOUI A, Yengo L, Verweij KJH, Visscher PM, et al
    15 years of GWAS discovery: Realizing the promise.
    Am J Hum Genet. 2023;110:179-194.
    PubMed     Abstract available

  22. BROWNING SR, Waples RK, Browning BL
    Fast, accurate local ancestry inference with FLARE.
    Am J Hum Genet. 2023;110:326-335.
    PubMed     Abstract available

  23. KO S, Chu BB, Peterson D, Okenwa C, et al
    Unsupervised discovery of ancestry-informative markers and genetic admixture proportions in biobank-scale datasets.
    Am J Hum Genet. 2023;110:314-325.
    PubMed     Abstract available

    January 2023
  24. LI A, Liu S, Bakshi A, Jiang L, et al
    mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data.
    Am J Hum Genet. 2023;110:30-43.
    PubMed     Abstract available

  25. WILCZEWSKI CM, Obasohan J, Paschall JE, Zhang S, et al
    Genotype first: Clinical genomics research through a reverse phenotyping approach.
    Am J Hum Genet. 2023;110:3-12.
    PubMed     Abstract available

    December 2022
  26. NOVEMBRE J, Stein C, Asgari S, Gonzaga-Jauregui C, et al
    Addressing the challenges of polygenic scores in human genetic research.
    Am J Hum Genet. 2022;109:2095-2100.
    PubMed     Abstract available

  27. LITTLE ID, Koehly LM, Gunter C
    Understanding changes in genetic literacy over time and in genetic research participants.
    Am J Hum Genet. 2022;109:2141-2151.
    PubMed     Abstract available

    October 2022
  28. TAI DJC, Razaz P, Erdin S, Gao D, et al
    Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
    Am J Hum Genet. 2022;109:1789-1813.
    PubMed     Abstract available

    September 2022
  29. ATKINSON EG, Dalvie S, Pichkar Y, Kalungi A, et al
    Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.
    Am J Hum Genet. 2022;109:1667-1679.
    PubMed     Abstract available

  30. NELSON SC, Gogarten SM, Fullerton SM, Isasi CR, et al
    Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience.
    Am J Hum Genet. 2022;109:1582-1590.
    PubMed     Abstract available

  31. LEMKE AA, Esplin ED, Goldenberg AJ, Gonzaga-Jauregui C, et al
    Addressing underrepresentation in genomics research through community engagement.
    Am J Hum Genet. 2022;109:1563-1571.
    PubMed     Abstract available

  32. MARAFI D, Kozar N, Duan R, Bradley S, et al
    A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
    Am J Hum Genet. 2022;109:1713-1723.
    PubMed     Abstract available

    August 2022
  33. BREWER T, Yehia L, Bazeley P, Eng C, et al
    Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants.
    Am J Hum Genet. 2022;109:1520-1533.
    PubMed     Abstract available

  34. RAMDAS S, Judd J, Graham SE, Kanoni S, et al
    A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
    Am J Hum Genet. 2022;109:1366-1387.
    PubMed     Abstract available

  35. AVADHANAM S, Williams AL
    Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls.
    Am J Hum Genet. 2022;109:1405-1420.
    PubMed     Abstract available

    July 2022
  36. BOMBARD Y, Ginsburg GS, Sturm AC, Zhou AY, et al
    Digital health-enabled genomics: Opportunities and challenges.
    Am J Hum Genet. 2022;109:1190-1198.
    PubMed     Abstract available

    June 2022
  37. APPELBAUM PS, Burke W, Parens E, Zeevi DA, et al
    Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?
    Am J Hum Genet. 2022;109:981-988.
    PubMed     Abstract available

  38. GUERRA G, Kachuri L, Wendt G, Hansen HM, et al
    The immunogenetics of viral antigen response is associated with subtype-specific glioma risk and survival.
    Am J Hum Genet. 2022;109:1105-1116.
    PubMed     Abstract available

    May 2022
  39. FAN C, Mancuso N, Chiang CWK
    A genealogical estimate of genetic relationships.
    Am J Hum Genet. 2022;109:812-824.
    PubMed     Abstract available

    April 2022
  40. CHIU AM, Molloy EK, Tan Z, Talwalkar A, et al
    Inferring population structure in biobank-scale genomic data.
    Am J Hum Genet. 2022;109:727-737.
    PubMed     Abstract available

  41. NOYES MD, Harvey WT, Porubsky D, Sulovari A, et al
    Familial long-read sequencing increases yield of de novo mutations.
    Am J Hum Genet. 2022;109:631-646.
    PubMed     Abstract available

  42. CUADROS-ESPINOZA S, Laval G, Quintana-Murci L, Patin E, et al
    The genomic signatures of natural selection in admixed human populations.
    Am J Hum Genet. 2022;109:710-726.
    PubMed     Abstract available

    March 2022
  43. BURKE W
    2021 McKusick Leadership Award: Learning from communities.
    Am J Hum Genet. 2022;109:390-392.
    PubMed     Abstract available

    2021 Curt Stern Award: Studying the biology of "junk".
    Am J Hum Genet. 2022;109:387-389.
    PubMed     Abstract available

    2021 Allan Award.
    Am J Hum Genet. 2022;109:384-386.
    PubMed     Abstract available

    2021 ASHG presidential address-Imagination and daring: Past, present, and future.
    Am J Hum Genet. 2022;109:381-383.
    PubMed     Abstract available

  47. 2021 ASHG awards and addresses.
    Am J Hum Genet. 2022;109:379-380.
    PubMed     Abstract available

  48. LI X, Yung G, Zhou H, Sun R, et al
    A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.
    Am J Hum Genet. 2022;109:446-456.
    PubMed     Abstract available

  49. BOAHEN CK, Temba GS, Kullaya VI, Matzaraki V, et al
    A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population.
    Am J Hum Genet. 2022;109:471-485.
    PubMed     Abstract available

  50. CORNELIS SS, Runhart EH, Bauwens M, Corradi Z, et al
    Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.
    Am J Hum Genet. 2022;109:498-507.
    PubMed     Abstract available

    February 2022
  51. SHARO AG, Hu Z, Sunyaev SR, Brenner SE, et al
    StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
    Am J Hum Genet. 2022;109:195-209.
    PubMed     Abstract available

    January 2022
  52. BROTMAN SM, Raulerson CK, Vadlamudi S, Currin KW, et al
    Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.
    Am J Hum Genet. 2022;109:66-80.
    PubMed     Abstract available

  53. PRIVE F, Aschard H, Carmi S, Folkersen L, et al
    Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort.
    Am J Hum Genet. 2022;109:12-23.
    PubMed     Abstract available

  54. ZHANG Z, An HH, Vege S, Hu T, et al
    Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion.
    Am J Hum Genet. 2022;109:180-191.
    PubMed     Abstract available

  55. BALICK DJ, Jordan DM, Sunyaev S, Do R, et al
    Overcoming constraints on the detection of recessive selection in human genes from population frequency data.
    Am J Hum Genet. 2022;109:33-49.
    PubMed     Abstract available

  56. HINDY G, Dornbos P, Chaffin MD, Liu DJ, et al
    Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
    Am J Hum Genet. 2022;109:81-96.
    PubMed     Abstract available

  57. NATRI HM, Hudjashov G, Jacobs G, Kusuma P, et al
    Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.
    Am J Hum Genet. 2022;109:50-65.
    PubMed     Abstract available

    December 2021
  58. KORF BR
    Describing human populations: An evolving picture in human genetics research.
    Am J Hum Genet. 2021;108:2207.

  59. SHAW DM, Polikowsky HP, Pruett DG, Chen HH, et al
    Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering.
    Am J Hum Genet. 2021;108:2271-2283.
    PubMed     Abstract available

  60. BYEON YJJ, Islamaj R, Yeganova L, Wilbur WJ, et al
    Evolving use of ancestry, ethnicity, and race in genetics research-A survey spanning seven decades.
    Am J Hum Genet. 2021;108:2215-2223.
    PubMed     Abstract available

  61. BLOUT ZAWATSKY CL, Shah N, Machini K, Perez E, et al
    Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
    Am J Hum Genet. 2021;108:2224-2237.
    PubMed     Abstract available

  62. PRINCE C, Mitchell RE, Richardson TG
    Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes.
    Am J Hum Genet. 2021;108:2259-2270.
    PubMed     Abstract available

    November 2021
  63. SMITH HS, Brothers KB, Knight SJ, Ackerman SL, et al
    Conceptualization of utility in translational clinical genomics research.
    Am J Hum Genet. 2021;108:2027-2036.
    PubMed     Abstract available

    October 2021
  64. GINSBURG G, Penny M, Feero WG, Miller M, et al
    The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.
    Am J Hum Genet. 2021;108:1817-1822.
    PubMed     Abstract available

  65. BRASCHI B, Seal RL, Tweedie S, Jones TEM, et al
    The risks of using unapproved gene symbols.
    Am J Hum Genet. 2021;108:1813-1816.
    PubMed     Abstract available

  66. MITANI T, Isikay S, Gezdirici A, Gulec EY, et al
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
    Am J Hum Genet. 2021;108:1981-2005.
    PubMed     Abstract available

  67. MUKHERJEE S, Cogan JD, Newman JH, Phillips JA 3rd, et al
    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
    Am J Hum Genet. 2021;108:1946-1963.
    PubMed     Abstract available

    September 2021
    The omnigenic model and polygenic prediction of complex traits.
    Am J Hum Genet. 2021;108:1558-1563.
    PubMed     Abstract available

  69. STARK Z, Foulger RE, Williams E, Thompson BA, et al
    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
    Am J Hum Genet. 2021;108:1551-1557.
    PubMed     Abstract available

    August 2021
  70. YENGO L, Yang J, Keller MC, Goddard ME, et al
    Genomic partitioning of inbreeding depression in humans.
    Am J Hum Genet. 2021;108:1488-1501.
    PubMed     Abstract available

    July 2021
  71. ARRIAGA-MACKENZIE IS, Matesi G, Chen S, Ronco A, et al
    Summix: A method for detecting and adjusting for population structure in genetic summary data.
    Am J Hum Genet. 2021;108:1270-1282.
    PubMed     Abstract available

    May 2021
  72. BYERS PH
    2020 McKusick Award address.
    Am J Hum Genet. 2021;108:761-763.
    PubMed     Abstract available

  73. TSAI YT, Li Y, Ryu J, Su PY, et al
    Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration.
    Am J Hum Genet. 2021;108:903-918.
    PubMed     Abstract available

  74. LEWIS KL, Turbitt E, Chan PA, Epps S, et al
    Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.
    Am J Hum Genet. 2021;108:894-902.
    PubMed     Abstract available

  75. ZHAO X, Collins RL, Lee WP, Weber AM, et al
    Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
    Am J Hum Genet. 2021;108:919-928.
    PubMed     Abstract available

    April 2021
  76. MCINNES G, Sharo AG, Koleske ML, Brown JEH, et al
    Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
    Am J Hum Genet. 2021;108:535-548.
    PubMed     Abstract available

  77. MARTIN AR, Atkinson EG, Chapman SB, Stevenson A, et al
    Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
    Am J Hum Genet. 2021;108:656-668.
    PubMed     Abstract available

  78. DURVASULA A, Lohmueller KE
    Negative selection on complex traits limits phenotype prediction accuracy between populations.
    Am J Hum Genet. 2021;108:620-631.
    PubMed     Abstract available

    March 2021

  79. How science will help us move forward in 2021.
    Am J Hum Genet. 2021;108:371-372.
    PubMed     Abstract available

    2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.
    Am J Hum Genet. 2021;108:395-399.
    PubMed     Abstract available

    ASHG 2020 Curt Stern Award introduction: Fowzan Sami Alkuraya.
    Am J Hum Genet. 2021;108:392-394.
    PubMed     Abstract available

  82. KING MC
    2020 William Allan Award address: genetics as a way of thinking-cultural inheritance from our teachers.
    Am J Hum Genet. 2021;108:386-391.
    PubMed     Abstract available

    2020 William Allan Award introduction: Mary-Claire King.
    Am J Hum Genet. 2021;108:383-385.
    PubMed     Abstract available

    2020 ASHG presidential address: the 'BIG TENT' of genetics/genomics and our world.
    Am J Hum Genet. 2021;108:375-382.
    PubMed     Abstract available

  85. DRIVAS TG, Lucas A, Zhang X, Ritchie MD, et al
    Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.
    Am J Hum Genet. 2021;108:482-501.
    PubMed     Abstract available

  86. SELVARAJAN I, Toropainen A, Garske KM, Lopez Rodriguez M, et al
    Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease.
    Am J Hum Genet. 2021;108:411-430.
    PubMed     Abstract available

  87. ROBINS C, Liu Y, Fan W, Duong DM, et al
    Genetic control of the human brain proteome.
    Am J Hum Genet. 2021;108:400-410.
    PubMed     Abstract available

    February 2021
  88. LAGLER TM, Abnousi A, Hu M, Yang Y, et al
    HiC-ACT: improved detection of chromatin interactions from Hi-C data via aggregated Cauchy test.
    Am J Hum Genet. 2021;108:257-268.
    PubMed     Abstract available

  89. MILLER D
    The diagnostic odyssey: our family's story.
    Am J Hum Genet. 2021;108:217-218.
    PubMed     Abstract available

    January 2021
  90. BIESECKER LG, Adam MP, Alkuraya FS, Amemiya AR, et al
    A dyadic approach to the delineation of diagnostic entities in clinical genomics.
    Am J Hum Genet. 2021;108:8-15.
    PubMed     Abstract available

  91. BONHAM VL, Green ED
    The genomics workforce must become more diverse: a strategic imperative.
    Am J Hum Genet. 2021;108:3-7.
    PubMed     Abstract available

  92. DJORDJEVIC D, Pinard M, Gauthier MS, Smith-Hicks C, et al
    De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
    Am J Hum Genet. 2021;108:186-193.
    PubMed     Abstract available

    December 2020
  93. RODGER C, Flex E, Allison RJ, Sanchis-Juan A, et al
    De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
    Am J Hum Genet. 2020;107:1129-1148.
    PubMed     Abstract available

  94. TORRES JM, Abdalla M, Payne A, Fernandez-Tajes J, et al
    A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes.
    Am J Hum Genet. 2020;107:1011-1028.
    PubMed     Abstract available

    November 2020
  95. LYNCH JA, Goldenberg AJ, Garrison NA, Brothers KB, et al
    Analogies in Genomics Policymaking: Debates and Drawbacks.
    Am J Hum Genet. 2020;107:797-801.
    PubMed     Abstract available

  96. AMENDOLA LM, Muenzen K, Biesecker LG, Bowling KM, et al
    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
    Am J Hum Genet. 2020;107:932-941.
    PubMed     Abstract available

  97. OWEN KA, Price A, Ainsworth H, Aidukaitis BN, et al
    Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries.
    Am J Hum Genet. 2020;107:864-881.
    PubMed     Abstract available

  98. FRITSCHE LG, Patil S, Beesley LJ, VandeHaar P, et al
    Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks.
    Am J Hum Genet. 2020;107:815-836.
    PubMed     Abstract available

    October 2020
  99. PATRINOS GP, Pasparakis E, Koiliari E, Pereira AC, et al
    Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries.
    Am J Hum Genet. 2020;107:589-595.
    PubMed     Abstract available

  100. RAGSDALE AP, Nelson D, Gravel S, Kelleher J, et al
    Lessons Learned from Bugs in Models of Human History.
    Am J Hum Genet. 2020;107:583-588.
    PubMed     Abstract available

  101. MIDDLETON A, Milne R, Almarri MA, Anwer S, et al
    Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
    Am J Hum Genet. 2020;107:743-752.
    PubMed     Abstract available

  102. BEESLEY J, Sivakumaran H, Moradi Marjaneh M, Shi W, et al
    eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.
    Am J Hum Genet. 2020;107:778-787.
    PubMed     Abstract available

  103. GALER PD, Ganesan S, Lewis-Smith D, McKeown SE, et al
    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
    Am J Hum Genet. 2020;107:683-697.
    PubMed     Abstract available

    September 2020

  104. Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations.
    Am J Hum Genet. 2020;107:379-380.
    PubMed     Abstract available

  105. MULINDWA J, Noyes H, Ilboudo H, Pagani L, et al
    High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation.
    Am J Hum Genet. 2020;107:473-486.
    PubMed     Abstract available

  106. DEMIRDJIAN L, Xu Y, Bahrami-Samani E, Pan Y, et al
    Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data.
    Am J Hum Genet. 2020;107:461-472.
    PubMed     Abstract available

  107. ROBINSON PN, Ravanmehr V, Jacobsen JOB, Danis D, et al
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.
    Am J Hum Genet. 2020;107:403-417.
    PubMed     Abstract available

    August 2020
  108. EASTEAL S, Arkell RM, Balboa RF, Bellingham SA, et al
    Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.
    Am J Hum Genet. 2020;107:175-182.
    PubMed     Abstract available

  109. KIM HI, Ye B, Gosalia N, Koroglu C, et al
    Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.
    Am J Hum Genet. 2020;107:251-264.
    PubMed     Abstract available

  110. ZHANG Y, Yang HT, Kadash-Edmondson K, Pan Y, et al
    Regional Variation of Splicing QTLs in Human Brain.
    Am J Hum Genet. 2020;107:196-210.
    PubMed     Abstract available

    July 2020
  111. KATZ AE, Nussbaum RL, Solomon BD, Rehm HL, et al
    Management of Secondary Genomic Findings.
    Am J Hum Genet. 2020;107:3-14.
    PubMed     Abstract available

  112. ZHOU Y, Browning BL, Browning SR
    Population-Specific Recombination Maps from Segments of Identity by Descent.
    Am J Hum Genet. 2020;107:137-148.
    PubMed     Abstract available

  113. CHEN M, Sidore C, Akiyama M, Ishigaki K, et al
    Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan.
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