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

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

(2017) Adam Ameur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

(2017) Simon Ardui et al.   HUMAN MUTATION

GuideScan software for improved single and paired CRISPR guide RNA design

(2017) Alexendar R Perez et al.   NATURE BIOTECHNOLOGY

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

(2017) Qian Liu et al.   Genome Medicine

Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications

(2016) Thang T. Pham et al.   MOLECULAR GENETICS AND GENOMICS

Polymerase specific error rates and profiles identified by single molecule sequencing

(2016) Matthew S. Hestand et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

De novo assembly and phasing of a Korean human genome

(2016) Jeong-Sun Seo et al.   NATURE

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

Long-read sequencing and de novo assembly of a Chinese genome

(2016) Lingling Shi et al.   Nature Communications

CRISPRdirect: software for designing CRISPR/Cas guide RNA with reduced off-target sites

(2014) Yuki Naito et al.   BIOINFORMATICS

E-CRISP: fast CRISPR target site identification

(2014) Florian Heigwer et al.   NATURE METHODS

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

(2014) Karen Usdin et al.   Frontiers in Genetics

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

Advantages of Single-Molecule Real-Time Sequencing in High-GC Content Genomes

(2013) Seung Chul Shin et al.   PLoS One

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

(2012) Monique Losekoot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

Haplotype analysis of the CAG and CCG repeats in 21 Brazilian families with Huntington’s disease

(2012) Luciana de A Agostinho et al.   JOURNAL OF HUMAN GENETICS

Targeted enrichment of genomic DNA regions for next-generation sequencing

(2011) F. Mertes et al.   Briefings in Functional Genomics

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

(2011) Oliver W Quarrell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel approach to investigate tissue-specific trinucleotide repeat instability

(2010) Jong-Min Lee et al.   BMC Systems Biology

Direct detection of DNA methylation during single-molecule, real-time sequencing

(2010) Benjamin A Flusberg et al.   NATURE METHODS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A flexible and efficient template format for circular consensus sequencing and SNP detection

(2010) K. J. Travers et al.   NUCLEIC ACIDS RESEARCH

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

(2009) Meera Swami et al.   HUMAN MOLECULAR GENETICS

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

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE