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Genetics and epigenetics

Diagnostics Genetics and epigenetics

On NTRK and Other Fusion Biomarkers

| Fernando Lopez-Rios

Next-generation sequencing is changing the future of precision oncology with its ability to test for NTRK gene fusions and more

Subspecialties Microbiology and immunology

A Whole New (Microbial) World

| Luke Turner

New research uncovers thousands of previously unidentified tiny proteins in the microbiome that could advance our understanding of human health

Diagnostics Genetics and epigenetics

Reference Genome Refresh

| Luke Turner

An analysis of 1,000 Swedish genomes reveals greater heterogeneity and shows why the human reference genome needs updating

Diagnostics Genetics and epigenetics

Unraveling Complexity

| Michael Schubert

A new kind of deep learning model uses nonlinear information to draw new associations between genes and diseases

Diagnostics Genetics and epigenetics

A Pharmacogenomic Promise

| Michael Schubert

Pharmacogenomic testing can only improve patient care if it’s clinically validated, judiciously applied, and easily understood by healthcare providers

Outside the Lab Profession

Quick Hits

| Luke Turner

From a urine test to a coloring book, we explore the latest in pathology and laboratory medicine with these bitesized news stories

Diagnostics Genetics and epigenetics

Exploring the Epi-signature

| Luke Turner

New research shows that genome-wide testing of DNA methylation can diagnose previously unsolved cases of neurodevelopmental and congenital anomalies

Diagnostics Liquid biopsy

Outpacing Resistance

| Lisa Jensen-Long

Simple, accurate, and reproducible methods can help with treatment selection and resistance detection via liquid biopsy

Diagnostics Microbiology and immunology

The Quest to Breathe Easy

| Ian Mason

As non-tuberculous mycobacterial lung disease increases, so do the efforts to find better diagnostics and treatments

Diagnostics Genetics and epigenetics

A Day at the (sncRNA) Zoo

| Luke Turner

It’s tricky to distinguish between valid and false-positive miRNA biomarkers – but evolutionarily conserved genetic signatures in animals could help

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