A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

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Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

(2018) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

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jMorp: Japanese Multi Omics Reference Panel

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Position effects influencing intrachromosomal repair of a double-strand break in budding yeast

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Discovery and genotyping of structural variation from long-read haploid genome sequence data

(2016) John Huddleston et al.   GENOME RESEARCH

The Tohoku Medical Megabank Project: Design and Mission

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De novo assembly and phasing of a Korean human genome

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Analysis of protein-coding genetic variation in 60,706 humans

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LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach

(2015) Satoko Miyatake et al.   JOURNAL OF HUMAN GENETICS

Assembly and diploid architecture of an individual human genome via single-molecule technologies

(2015) Matthew Pendleton et al.   NATURE METHODS

Whole-genome CNV analysis: advances in computational approaches

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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

Accurate and exact CNV identification from targeted high-throughput sequence data

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The autosomal recessively inherited progressive myoclonus epilepsies and their genes

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

Real-Time DNA Sequencing from Single Polymerase Molecules

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