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

NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data

(2018) Li Fang et al.   BMC BIOINFORMATICS

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

(2018) Zhidong Cen et al.   BRAIN

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

(2018) Ida Höijer et al.   HUMAN MUTATION

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Accurate detection of complex structural variations using single-molecule sequencing

(2018) Fritz J. Sedlazeck et al.   NATURE METHODS

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

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

(2018) Jennifer Reiner et al.   npj Genomic Medicine

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

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

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

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

(2017) Ivette Landrian et al.   PLoS One

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

(2016) John Huddleston et al.   GENOME RESEARCH

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy

(2016) Zhidong Cen et al.   MOVEMENT DISORDERS

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances

(2016) Zhi-dong Cen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

(2015) Karen N. McFarland et al.   PLoS One

Whole-genome CNV analysis: advances in computational approaches

(2015) Mehdi Pirooznia et al.   Frontiers in Genetics

PBHoney: identifying genomic variants via long-read discordance and interrupted mapping

(2014) Adam C English et al.   BMC BIOINFORMATICS

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing

(2013) Koichiro Doi et al.   BIOINFORMATICS

Clinical anticipation in Japanese families of benign adult familial myoclonus epilepsy

(2011) Takefumi Hitomi et al.   EPILEPSIA

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

(2011) Satsuki Mori et al.   JOURNAL OF HUMAN GENETICS