Nearly 1 million genomes reveal what an average human genome contains
An analysis of 879,461 adult genomes found approximately 4.3 million to 5.3 million small variants per person, alongside de novo ...
Tag: copy number variants
Genetic tests identify three PAX6-linked aniridia variants in Chinese families
A three-family study combined arrays, exome sequencing, karyotyping, quantitative PCR and Sanger sequencing to identify two large deletions and one ...
Hidden DNA Deletions May Explain Why Some People Are Born Without a Sense of Smell
A new evidence-stratified review reveals that copy number variants—submicroscopic DNA deletions and duplications—may underlie congenital olfactory dysfunction, from SEMA3A and ...
Cleft palate genetics study finds no common variant link to neurodevelopmental risk
A large genomic study of children with cleft lip and/or palate finds that common genetic variants do not explain the ...
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 ...
Trio Exome Sequencing Reveals Genetic Clues to Autism in Rwandan Children
A trio-based whole-exome sequencing study of Rwandan children with autism has identified rare pathogenic and uncertain variants in nearly a ...
Rare Copy Number Variants Emerge as Schizophrenia Risk Factors in East Asian Populations
A large genomic study of East Asian ancestry populations has identified rare copy number variants linked to schizophrenia and, through ...
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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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