Reference Summary: Birgitt Schuele, Stanford University School of Medicine used OGM to measure a large repeat expansion in a family with ... Presentation at the Mutations in Time and Space 2026 hosted by Wellcome Connecting Science at the Wellcome Sanger Institute ...

Deciphering Brain Mosaicism With Long Read Sequencing -

Birgitt Schuele, Stanford University School of Medicine used OGM to measure a large repeat expansion in a family with ... Presentation at the Mutations in Time and Space 2026 hosted by Wellcome Connecting Science at the Wellcome Sanger Institute ... Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal-dominant disorder caused by an expanded intronic pentanucleotide ...

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  • Birgitt Schuele, Stanford University School of Medicine used OGM to measure a large repeat expansion in a family with ...
  • Presentation at the Mutations in Time and Space 2026 hosted by Wellcome Connecting Science at the Wellcome Sanger Institute ...
  • Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal-dominant disorder caused by an expanded intronic pentanucleotide ...
  • The Seattle Science Foundation is a not for profit organization dedicated to advancing the quality of patient care through ...
  • In this ESHG 2021 presentation, PacBio Chief Scientific Officer Jonas Korlach, Ph.D., describes why HiFi

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Deciphering Brain Mosaicism with Long-read Sequencing

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Presented By: Tracy Bedrosian, Ph.D. Speaker Biography: Tracy Bedrosian leads a laboratory in the Institute for Genomic ...

Long Read Sequencing Applications for Brain Tumors - Analiz Rodriguez, MD, PhD, FAANS

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Mosaicism with heterozygosity in meiosis assessed using long-read sequencing

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Presentation at the Mutations in Time and Space 2026 hosted by Wellcome Connecting Science at the Wellcome Sanger Institute ...

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Optical mapping & long-read sequencing decipher structural composition of ATXN10 repeat expansion

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Dr. Birgitt Schuele, Stanford University School of Medicine used OGM to measure a large repeat expansion in a family with ...

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Mutations that accumulate as one ages contribute to various neurological disorders. Many people grew up learning that every cell ...

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Read more details and related context about Detection of mosaic and somatic structural variants with Sniffles2.

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Long-Read Sequencing, Structural Variation and Disease.

Presented by Evan Eichler Howard Hughes Medical Institute University of Washington.

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