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The first genetic marker to predict response to pembrolizumab (Keytruda) has been identified by researchers

ASCO: MMR Deficiency Predicts Pembrolizumab Response

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Findings may help doctors better choose patients to receive pembrolizumab (Keytruda)
Copy number variations correlate with phenotypes such as intellectual disability in the general population

Genetic Variants Linked to Educational Attainment

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CNVs linked to lower education attainment in geographically distinct unselected populations
Many patients with cancer are interested in comprehensive tumor genetic profiling (CGP)

ASCO: Many Cancer Patients Interested in Genetic Profiling

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Two-thirds of patients feel that tumor profiling could improve their treatment; many will pay out of pocket
Resistance training seems to be most effective for people with a low genetic risk for a high body mass index

Resistance Training Effects Vary Per Genetic Profiles

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Not as effective in women with high risk for obesity
Hemizygous testis-expressed 11 gene mutations can cause meiotic arrest and azoospermia

X-Linked TEX11 Mutations Identified in Azoospermia

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Mutations in TEX11 occur in some men with azoospermia with meiotic arrest
When the seasons change

Some Gene Activity Differs Depending on Season

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Altered activity could explain why some diseases are worse in some months than others
Post-traumatic stress disorder seems to be associated with premature aging

PTSD Associated With Premature Senescence

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Evidence of reduced leukocyte telomere length, increased pro-inflammatory markers
Use of a next-generation sequencing panel including genes associated with highly penetrant colorectal cancer and polyposis (CRCP) syndromes is cost-effective for CRCP diagnosis

Next-Generation Sequencing Panel Cost-Effective for CRC

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Panel including genes linked to highly penetrant CRC and polyposis syndromes seems cost-effective
For the first time

Signal on Telomeres May Point to Cancer Risk Earlier

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At issue is the shifting status of telomeres in the blood
There is a genetic link for strabismus and schizophrenia

ARVO: Genetic Link ID’d for Strabismus and Schizophrenia

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Almost half of the genes dysregulated in strabismic medial rectus muscle are schizophrenia biomarkers