Systematic decision frameworks for the socially responsible use of precision medicine

2024-10-5

A genotype imputation reference panel specific for native Southeast Asian populations

2024-10-5

Native Hawaiian and Pacific Islander populations in genomic research

2024-9-30

Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease

2024-9-30

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank

2024-9-28

CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma

2024-9-25

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

2024-9-8

MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model

2024-8-6

Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders

2024-8-5

Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants

2024-7-16

Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

2024-7-5

Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study

2024-6-28

Structure and transcription of integrated HPV DNA in vulvar carcinomas

2024-6-19

Pharmacogenomics of coronary artery response to intravenous gamma globulin in kawasaki disease

2024-5-30

Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients

2024-5-29

An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing

2024-5-29

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

2024-5-27

Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates

2024-5-17

Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

2024-5-4

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

2024-5-4

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

2024-4-6

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review

2024-4-3

Future implications of polygenic risk scores for life insurance underwriting

2024-3-30

Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib

2024-3-27

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

2024-3-27

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

2024-3-26

Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

2024-3-22

Genomes in clinical care

2024-3-14

Genome-wide association analyses of ovarian cancer patients undergoing primary debulking surgery identify candidate genes for residual disease

2024-3-5

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

2024-3-1

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

2024-2-27

DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants

2024-2-26

Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

2024-2-26

Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer

2024-2-23

A call for increased inclusivity and global representation in pharmacogenetic testing

2024-2-22

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

2024-2-19

Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes

2024-2-17

Eliciting parental preferences and values for the return of additional findings from genomic sequencing

2024-2-14

Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand

2024-2-14

A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome

2024-2-7

Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer

2024-1-22

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants

2024-1-20

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

2024-1-11

Characterizing the pathogenicity of genetic variants: the consequences of context

2024-1-9

Highly efficient capture approach for the identification of diverse inherited retinal disorders

2024-1-9

Breaking the mold with RNA—a “RNAissance” of life science

2024-1-9

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

2024-1-3

Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer

2023-11-24

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

2023-11-22

Populational pan-ethnic screening panel enabled by deep whole genome sequencing

2023-11-20