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From The Labs

Using AI to improve diagnosis of rare genetic disorders

May 9, 2024 AI,  artificial intelligence,  exome reanalysis,  genetic diagnosis,  MARRVEL,  Mendelian disorders,  Rare Diseases,  Research

AIM narrows the differential genetic diagnoses down to a few genes and can potentially guide the discovery of previously unknown disorders.

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A pair of hands working with research samples.
From The Labs

Research method finds new use in diagnosis of genetic disorders

April 25, 2024 genetic diagnosis,  Rare Diseases,  Research,  RNA sequencing,  transdifferentiation

This new testing method represents a paradigm shift in laboratory genetics, moving from the traditional DNA-centric approach to one focusing on the patient’s cells.

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The intersection of big data and genomics
From The Labs

A wide spectrum of human neurological diseases linked to variations of one gene, DHX9

July 25, 2023 DHX9,  genetic diagnosis,  Genome Sequencing,  genomic variation,  neurological disease,  neuropathy,  Research,  undiagnosed disease

This study shows that gene DHX9 is involved in regulating mammalian neurodevelopment and neuronal well-being.

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From The Labs

Research Spotlight: Dr. Fritz Sedlazeck assists in filling gaps in human genome, sequencing Rice University owl genome and more

May 26, 2022 complete human genome,  genetic diagnosis,  great horned owl genome,  microchromosomes,  nanopore DNA sequencing,  Research,  science teaching

Research Spotlight highlights contributions of Baylor faculty to their field of interest.

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Brain-with-DNA-featured
From The Labs

The discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more

April 14, 2022 genetic diagnosis,  neurodevelopmental disorders,  PAX5,  Research,  undiagnosed diseases

Discovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.

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From The Labs

Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations

November 11, 2021 genetic diagnosis,  multilocus pathogenic variation,  rare neurodevelopmental disorders,  Research

A global team of researchers, including researchers from Baylor College of Medicine, worked to find genetic answers for Turkish families.

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From The Labs

Metabolomics meets genomics to improve patient diagnosis

July 7, 2020 genetic diagnosis,  Genomics,  metabolomics,  Research,  undiagnosed disease

Researchers at Baylor College of Medicine have improved their ability to identify the genetic cause of undiagnosed conditions.

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From the Labs: Image of the Month

Blood vessels (magenta) intertwined with metastatic medulloblastoma tumor cells (green) nestled within the protective layers that surround the mouse spinal cord. From the Labs: a closer look at metastatic medulloblastoma

Healthy Habits: A DOC-umentary Series

https://www.youtube.com/watch?v=SlNiMWHUhbc

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