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: rare variants
The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality
A comparative analysis of 462 mammals produced two evolutionary constraint measures associated with human gene-importance metrics while identifying short genes ...
Statistical Imputation of Intelligence Scores Expands Genetic Discovery in UK Biobank
Researchers statistically imputed fluid intelligence scores for hundreds of thousands of UK Biobank participants, reducing ascertainment bias and uncovering 26 ...
Genetic Map of Childhood Obesity Reveals Variants That Act Only in Early Life
A landmark genome-wide study of nearly 600,000 individuals identifies 624 genetic signals for childhood adiposity, many of which act only ...
New Scoring Method Pinpoints the Rare Genetic Variants That Matter Most for Common Diseases
A new heritability-optimized scoring method called RovHer identifies the rare missense variants that explain the most genetic variation in complex ...
AI Variant Scoring Tools Disagree Wildly in Gene-Based Genetic Association Studies
A large-scale UK Biobank study shows that five leading machine learning variant annotation methods produce markedly different calibration, power, and ...
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 ...
Rare Gene Variants May Explain Why Some Brains Are More Vulnerable to Concussion
Whole exome sequencing of 93 people with concussion history reveals a fivefold excess of rare damaging variants in ion channel ...
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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