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Three novel loci have been identified for polycystic ovary syndrome

Three Novel Loci Associated With Polycystic Ovary Syndrome ID’d

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Genetic links with obesity, T2DM, lipids suggest shared genetic architecture for PCOS, metabolic traits
Genes are responsible for approximately one in 10 cases of chronic kidney disease in adults

Exome Sequencing Provides Genetic Diagnosis for Some With CKD

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Genetic diagnosis for 9.3 percent of 3,315 patients with chronic kidney disease from two cohorts
Medical science has made tremendous advances in personalized medicine. However

Many Americans Unaware of Promise of Personalized Medicine

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41 percent are not at all familiar with personalized medicine; only 5 percent say they are very familiar
Though common breast cancer variants indicate increased breast cancer risk

Rare Variants Associated With Interval Breast Cancers

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The presence of these variants is also linked to increased risk for death
The interpretation of genomic epilepsy tests has evolved rapidly in the last five years

Results of Pediatric Genomic Epilepsy Tests Often Reclassified

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Over 30 percent of pediatric patients with genetic dx, undiagnosed conditions had results reclassified
A multigene genomic classifier test for thyroid nodules with indeterminate cytology shows high sensitivity and negative predictive value

Genetic Test Helps ID Benign Versus Malignant Thyroid Nodules

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ThyroSeq v3 has 94 percent sensitivity, 82 percent specificity for Bethesda III and IV nodules
A polygenic risk score for schizophrenia can predict 12-week posttreatment symptom scores among patients with first-episode psychosis

Polygenic Risk Score Predicts Tx Response in Schizophrenia

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PRS significantly predictive of adjusted 12-week symptom scores across four cohorts
A polygenic risk score can identify subsequent breast cancer risk among childhood survivors of cancer

Genetic Risk Score IDs Breast CA Risk in Female Child CA Survivors

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Survivors in highest quintile of polygenic risk score have increased relative rate of breast cancer
A lack of understanding of terminology

Barriers to Prostate Cancer Research in Black Men Identified

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Mistrust, lack of knowledge, unfavorable attitudes are barriers to genomic testing, study participation
Integration of plasma next-generation sequencing into the routine management of metastatic non-small cell lung cancer results in an increase in the detection of therapeutically targetable mutations

Plasma-Based Genotyping Aids Targeted Tx of Metastatic NSCLC

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Most patients who received targeted therapy based on plasma result achieved clinical response