Racialising genetic risk: assumptions, realities, and recommendations
Scientists and clinicians wield the immense power of defining reality and producing facts. 1
Although no person can truly claim objectivity, scholars enjoy the authority of expertise and …
Although no person can truly claim objectivity, scholars enjoy the authority of expertise and …
[HTML][HTML] Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical …
Carrier screening began 50 years ago with screening for conditions that have a high
prevalence in defined racial/ethnic groups (eg, Tay–Sachs disease in the Ashkenazi Jewish …
prevalence in defined racial/ethnic groups (eg, Tay–Sachs disease in the Ashkenazi Jewish …
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
Uncloaking a lost cause: Decolonizing ancestry estimation in the United States
Since the professionalization of US‐based forensic anthropology in the 1970s, ancestry
estimation has been included as a standard part of the biological profile, because …
estimation has been included as a standard part of the biological profile, because …
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by
monoallelic variants in KMT2A and characterized by intellectual disability and …
monoallelic variants in KMT2A and characterized by intellectual disability and …
Expanded carrier screening for reproductive risk assessment: an evidence‐based practice guideline from the National Society of Genetic Counselors
Expanded carrier screening (ECS) intends to broadly screen healthy individuals to
determine their reproductive chance for autosomal recessive (AR) and X‐linked (XL) …
determine their reproductive chance for autosomal recessive (AR) and X‐linked (XL) …
[HTML][HTML] Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the …
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …
geneticists and other clinicians to help them provide quality medical services. Adherence to …
Molecular, socioeconomic, and clinical factors affecting racial and ethnic disparities in colorectal cancer survival
Importance Disparity in overall survival (OS) and differences in the frequency of driver gene
variants by race and ethnicity have been separately observed in patients with colorectal …
variants by race and ethnicity have been separately observed in patients with colorectal …
Expanded carrier screening: What conditions should we screen for?
Carrier screening tests reproductive couples for their risk of having children affected by
serious monogenic conditions. Carrier screening has historically been offered for certain …
serious monogenic conditions. Carrier screening has historically been offered for certain …
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene
S Zhao, Y Wang, X **n, Z Fang, L Fan, Z Peng… - Scientific Reports, 2022 - nature.com
Spinal muscular atrophy (SMA) is one of the most common and severe genetic diseases.
SMA carrier screening is an effective way to identify couples at risk of having affected …
SMA carrier screening is an effective way to identify couples at risk of having affected …