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Method: Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation
- Steven Erwood,
- Reid A. Brewer,
- Teija M.I. Bily,
- Eleonora Maino,
- Liangchi Zhou,
- Ronald D. Cohn,
- and Evgueni A. Ivakine
Genome Res. December 2019 29: 2010-2019; Published in Advance November 21, 2019, doi:10.1101/gr.250720.119
...on Niemann–Pick disease type C (NPC) as an example. NPC is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of unesterified cholesterol and glycolipids. In 95% of cases, NPC is caused by mutations in the NPC1 gene, for which more than 200 unique disease-causing variants have been...
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Review: Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
- Terence Gall-Duncan,
- Nozomu Sato,
- Ryan K.C. Yuen,
- and Christopher E. Pearson
Genome Res. January 2022 32: 1-27; Published in Advance December 29, 2021, doi:10.1101/gr.269530.120
...for the accurate detection of expanded repeats within SRS data, the threshold length for many of the disease-causing TRs is close to or beyond the typical short sequence read length of 100–150 bases. Algorithms like EH can infer repeat lengths from SRS data, but their accuracy is still not sufficient to make...

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