[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

[HTML][HTML] Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences

R Chiu, IS Rajan-Babu, JM Friedman, I Birol - Genome Biology, 2021 - Springer
Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders.
Long-read sequencing offers an exciting avenue over conventional technologies for …

Clinical Cytogenetics: Current Practices and Beyond

MT Mathew, M Babcock, YCC Hou… - The journal of …, 2024 - academic.oup.com
Background Throughout history, the field of cytogenetics has witnessed significant changes
due to the constant evolution of technologies used to assess chromosome number and …

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

JL Méreaux, CS Davoine, M Coutelier… - Journal of Medical …, 2023 - jmg.bmj.com
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach
with targeted sizing of four repeat expansions accounting for most dominant cases, then …

[PDF][PDF] Expanding horizons of tandem repeats in biology and medicine: Why 'genomic dark matter'matters

AJ Hannan - Emerging Topics in Life Sciences, 2023 - portlandpress.com
Approximately half of the human genome includes repetitive sequences, and these DNA
sequences (as well as their transcribed repetitive RNA and translated amino-acid repeat …

[HTML][HTML] Bulked segregant RNA sequencing revealed difference between virulent and avirulent brown planthoppers

W Guan, J Shan, M Gao, J Guo, D Wu… - Frontiers in Plant …, 2022 - frontiersin.org
The brown planthopper (Nilaparvata lugens Stål, BPH) is one of the most devastating insect
pests of rice (Oryza sativa L.), but BPH populations have varying degrees of virulence to rice …