Rare Chromosome 19p13.3 Deletion Linked to Fatal Infant Heart and Gut Complications
A new case report describes a fatal infant case of 19p13.3 microdeletion syndrome featuring severe cardiomegaly, gastrointestinal complications, and a ...
Tag: clinical genetics
Landmark Nationwide Trial Shows Genome Sequencing Beats Standard Testing for Developmental Disorders
A nationwide Belgian randomized trial of 567 patients found that genome sequencing diagnosed 39.8 percent of developmental disorder cases, significantly ...
New database turns lab-scale gene tests into clinical evidence for uncertain variants
A new interface called MaveMD translates large-scale variant effect experiments into calibrated clinical evidence, enabling classification of 75 percent of ...
Machine learning method dicast spots disease-causing DNA deletions short-read tools miss
A machine learning method called dicast, trained on a manually curated multi-technology ground truth, detects structural variants from short-read sequencing ...
Trio Genome Sequencing Finds Genetic Causes in Most Kids Born Small Who Never Catch Up
A study of 99 children born small for gestational age found that trio-based whole-exome sequencing delivered a molecular diagnosis in ...
Jessica Adsit, MS, CGC, Receives the 2025 ACMG Foundation Genetic Counselor Best Abstract Award
Jessica Adsit, MS, CGC is making waves in the field of genetic counseling with her recent recognition as the 2025 ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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