Retrieve available abstracts of 77 articles: HTML format
Single Articles
May 2025
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
April 2025
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. PubMedAbstract available
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. PubMedAbstract available
March 2025
MORTON CC 2024 ASHG Leadership Award.
Am J Hum Genet. 2025;112:478-480. PubMedAbstract available
AHITUV N 2024 ASHG Scientific Achievement Award.
Am J Hum Genet. 2025;112:473-477. PubMedAbstract available
PERICAK-VANCE MA 2024 ASHG Lifetime Achievement Award.
Am J Hum Genet. 2025;112:470-472. PubMedAbstract available
LUPSKI JR 2024 Lifetime Achievement Award: Biology unbalanced: Genes, gene dosage, and
disease susceptibility.
Am J Hum Genet. 2025;112:467-469. PubMedAbstract available
GELB BD 2024 ASHG presidential address: Incomplete penetrance and variable expressivity:
Old concepts, new urgency.
Am J Hum Genet. 2025;112:461-466. PubMedAbstract available
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. PubMedAbstract available
February 2025
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
January 2025
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. PubMedAbstract available
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. PubMedAbstract available
December 2024
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
November 2024
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. PubMedAbstract available
TEMPLE SD, Waples RK, Browning SR Modeling recent positive selection using identity-by-descent segments.
Am J Hum Genet. 2024;111:2510-2529. PubMedAbstract available
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. PubMedAbstract available
October 2024
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
September 2024
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
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
August 2024
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. PubMedAbstract available
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. PubMedAbstract available
July 2024
MIGA KH From complete genomes to pangenomes.
Am J Hum Genet. 2024;111:1265-1268. PubMedAbstract available
MARTINI R, Davis MB The DARC side of genetics in cancer: Breast cancer disparities.
Am J Hum Genet. 2024;111:1261-1264. PubMedAbstract available
MORTON CC Exploring the noncoding genome with chromosomal structural rearrangements.
Am J Hum Genet. 2024;111:1258-1260. PubMedAbstract available
RUTHERFORD A Eugenics and the misuse of Mendel.
Am J Hum Genet. 2024;111:1254-1257. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
June 2024
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. PubMedAbstract available
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. PubMedAbstract available
May 2024
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. PubMedAbstract available
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. PubMedAbstract available
CAHOON JL, Rui X, Tang E, Simons C, et al Imputation accuracy across global human populations.
Am J Hum Genet. 2024;111:979-989. PubMedAbstract available
March 2024
COX NJ 2023 ASHG Leadership Award.
Am J Hum Genet. 2024;111:429-432. PubMedAbstract available
BOEHNKE M 2023 ASHG Leadership Award: Nancy Cox.
Am J Hum Genet. 2024;111:428. PubMedAbstract available
PRZEWORSKI M 2023 ASHG Scientific Achievement Award.
Am J Hum Genet. 2024;111:425-427. PubMedAbstract available
SHENDURE J 2023 ASHG Scientific Achievement Award: Molly Przeworski.
Am J Hum Genet. 2024;111:424. PubMedAbstract available
KLEIN O 2023 ASHG Lifetime Achievement Award: Neil Risch.
Am J Hum Genet. 2024;111:410-411. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
February 2024
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. PubMedAbstract available
January 2024
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. PubMedAbstract available
FOWLER DM, Rehm HL Will variants of uncertain significance still exist in 2030?
Am J Hum Genet. 2024;111:5-10. PubMedAbstract available
December 2023
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
November 2023
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
October 2023
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. PubMedAbstract available
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. PubMedAbstract available
September 2023
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. PubMedAbstract available
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. PubMedAbstract available
August 2023
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. PubMedAbstract available
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. PubMedAbstract available
July 2023
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. PubMedAbstract available
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. PubMedAbstract available
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. PubMedAbstract available
June 2023
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. PubMedAbstract available
May 2023
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. PubMedAbstract available
March 2023
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. PubMedAbstract available
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. PubMedAbstract available
On the report of the ASHG "Facing Our History-Building an Equitable Future"
initiative.
Am J Hum Genet. 2023;110:375-376. PubMedAbstract available