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Genetics and epigenetics

Diagnostics Genetics and epigenetics

IEM Identification

| Jonathan James

Combining metabolomics and DNA sequencing could be the key to discovering new inborn errors of metabolism in children.

Outside the Lab Profession

The Spice of Life

| Luke Turner

Genomic research has a diversity problem that could restrict the future effectiveness of precision medicine for minority groups

Diagnostics Genetics and epigenetics

The Right Dose for the Right Person

| Michael Schubert

New guidelines for CYPC29 genotyping ensure that the correct alleles are tested and patients are prescribed the correct doses of common drugs

Inside the Lab Technology and innovation

Solving the Big Problems

| Luke Turner

We speak to bioengineer Stephen Quake to learn about the noninvasive prenatal tests that have saved thousands of pregnant women’s lives

Diagnostics Biochemistry and molecular biology

A Disease With Many Faces

| David R. Hout

Triple-negative breast cancer is not a single entity, and understanding each patient’s molecular subtype can influence treatment and outcomes

Inside the Lab Precision medicine

Next-Generation Sequencing: Will It Really Replace Single-Gene Tests in Pathology Labs?

| Sponsored by Thermo Fisher Scientific

The move to in-house next-generation sequencing has resulted in time and tissue savings, and improved collaboration across cancer care specialties

Diagnostics Genetics and epigenetics

Circular RNA Makes Its Mark

| Jason Sherburn

A new detection method enhances circular RNA’s potential as a cancer biomarker and forms the basis of a new database

Outside the Lab Genetics and epigenetics

From Sports Captain to Genome Mapper

| Luke Turner

We sit down with England’s Chief Scientific Officer, Professor Dame Sue Hill, to learn how genomics will influence the future of pathology.

Subspecialties Genetics and epigenetics

Putting a Bug in Your Ear

| Michael Schubert

Variants in the FUT2 gene may increase susceptibility to otitis media by altering the microbiome of the middle ear

Diagnostics Genetics and epigenetics

Scrutinizing Breast Cancer

| Michael Schubert

The FLEX breast cancer registry intends to collect complete information on 10,000 patients over the course of 10 years

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