Published on 09/14/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand Anna et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Identification of 14 novel susceptibility loci for diaphragmatic hernia development and their biological and clinical implications: results from the UK Biobank.
Campbell Michelle et al. Surgical endoscopy 2022 -
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama Alissa M et al. NPJ genomic medicine 2022 7(1) 51 -
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay Danielle Christine Maria et al. Endocrine connections 2022
Cancer Genomics
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Endometrial Cancer Detection Using a Cervical DNA Methylation Assay (MPap) in Women with Abnormal Uterine Bleeding: A Multicenter Hospital-Based Validation Study.
Wen Kuo-Chang et al. Cancers 2022 14(17) -
Prevalence of ARID1A Mutations in Cell-Free Circulating Tumor DNA in a Cohort of 71,301 Patients and Association with Driver Co-Alterations.
Kurzrock Razelle et al. Cancers 2022 14(17) -
Risk Stratification for Breast Cancer Patient by Simultaneous Learning of Molecular Subtype and Survival Outcome Using Genetic Algorithm-Based Gene Set Selection.
Koo Bonil et al. Cancers 2022 14(17) -
Comparing Survival Outcomes for Advanced Cancer Patients Who Received Complex Genomic Profiling Using a Synthetic Control Arm.
O'Haire Sophie et al. Targeted oncology 2022 -
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Horak Peter et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24(9) 1991 -
The Progress of the Specific and Rapid Genetic Detection Methods for Ovarian Cancer Diagnosis and Treatment.
Dong Kejun et al. Technology in cancer research & treatment 2022 2115330338221114497 -
Enrollment of Individuals From Racial and Ethnic Minority Groups in Gynecologic Cancer Precision Oncology Trials.
Mattei Larissa H et al. Obstetrics and gynecology 2022 -
Efficacy and potential resistance mechanisms of afatinib in advanced non-small cell lung cancer patients with EGFR G719X/L861Q/S768I.
Pang Lan-Lan et al. Cancer 2022 -
BRAF p.V600E genetic testing based on ultrasound-guided fine-needle biopsy improves the malignancy rate in thyroid surgery: our single-center experience in the past 10 years.
Gong Lei et al. Journal of cancer research and clinical oncology 2022
Hereditary Cancer
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Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.
Dos Santos Wellington et al. Cancers 2022 14(17) -
Whole-exome sequencing study of familial nasopharyngeal carcinoma and its implication for identifying high-risk individuals.
Wang Tong-Min et al. Journal of the National Cancer Institute 2022 -
Higher polygenic risk for melanoma is associated with improved survival in a high ultraviolet radiation setting.
Seviiri Mathias et al. Journal of translational medicine 2022 20(1) 403
Chronic Disease
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Approaching discussions about genetics with palliative patients and their families: a qualitative exploration with genetic health professionals.
White Stephanie et al. European journal of human genetics : EJHG 2022
Ethics/Policy/Law
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Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
Young Jennifer L et al. Frontiers in genetics 2022 13949422 -
Blanket Consent and Trust in the Biobanking Context.
Nielsen Morten Ebbe Juul et al. Journal of bioethical inquiry 2022 -
Ethical, Legal, and Social Implications of Genomics in China: A Scoping Review and Implications for Precision Public Health.
Chen Zhuo et al. China CDC weekly 2022 4(32) 706-710
Practice
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Demand for Direct-to-Consumer Genetic Testing Services in China and Its Implications for Precision Public Health - China, 2021.
Zhu Chen et al. China CDC weekly 2022 4(32) 715-719 -
A Scoping Review of Global Guidelines for the Disclosure of Secondary Genomic Findings to Inform the Establishment of Guidelines in China.
Jiang Shan et al. China CDC weekly 2022 4(32) 697-705
Heart, Lung, Blood and Sleep Diseases
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PAEDIATRIC FAMILIAL HYPERCHOLESTEROLAEMIA SCREENING IN EUROPE - PUBLIC POLICY BACKGROUND AND RECOMMENDATIONS.
Gidding Samuel S et al. European journal of preventive cardiology 2022 -
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
Lopez-Pineda Arturo et al. Human genomics 2022 16(1) 37 -
Diverse Approaches to Gene Therapy of Sickle Cell Disease.
White Shanna L et al. Annual review of medicine 2022 -
Indications and utility of cardiac genetic testing in athletes.
Castelletti Silvia et al. European journal of preventive cardiology 2022 29(12) 1582-1591 -
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa Pedro et al. Frontiers in cardiovascular medicine 2022 9975478 -
Associations between polygenic risk of coronary artery disease and type 2 diabetes, lifestyle, and cardiovascular mortality: A prospective UK Biobank study.
Yun Jae-Seung et al. Frontiers in cardiovascular medicine 2022 9919374
Pharmacogenomics
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Evaluation of race and ethnicity disparities in outcome studies of CYP2C19 genotype-guided antiplatelet therapy.
Nguyen Anh B et al. Frontiers in cardiovascular medicine 2022 9991646 -
Pharmacogenomics in Children.
Rieder Michael J et al. Methods in molecular biology (Clifton, N.J.) 2022 2547569-593 -
Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review.
McDermott John H et al. Frontiers in medicine 2022 9945352
Reproductive Health
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Early cost-utility analysis of genetically-guided therapy for patients with drug-resistant epilepsy.
Gordon Louisa G et al. Epilepsia 2022 -
Prenatal genetic testing 1: screening tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022 -
Prenatal genetic testing 2: diagnostic tests.
Jenkins Morgan et al. Current opinion in pediatrics 2022 -
A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Xie Pingyuan et al. Human reproduction (Oxford, England) 2022 -
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: NEED FOR GREATER ADHERENCE TO PUBLISHED GUIDELINES.
Cornthwaite M et al. Prenatal diagnosis 2022