The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity

Advances in clinical next-generation sequencing: target enrichment and sequencing technologies

(2016) Leomar Y. Ballester et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

(2015) Min Wang et al.   BMC GENOMICS

Towards allele-level human leucocyte antigens genotyping - assessing two next-generation sequencing platforms: Ion Torrent Personal Genome Machine and Illumina MiSeq

(2015) J. L. Duke et al.   International Journal of Immunogenetics

The dichotomy between disease phenotype databases and the implications for understanding complex diseases involving the major histocompatibility complex

(2015) P. M. Clark et al.   International Journal of Immunogenetics

Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform

(2015) Melanie Schirmer et al.   NUCLEIC ACIDS RESEARCH

PacBio Sequencing and Its Applications

(2015) Anthony Rhoads et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

Characterization of structural variants with single molecule and hybrid sequencing approaches

(2014) Anna Ritz et al.   BIOINFORMATICS

A first look at the Oxford Nanopore MinION sequencer

(2014) Alexander S. Mikheyev et al.   Molecular Ecology Resources

Enrichment of target sequences for next-generation sequencing applications in research and diagnostics

(2013) Janine Altmüller et al.   BIOLOGICAL CHEMISTRY

An evaluation of the PacBio RS platform for sequencing and de novo assembly of a chloroplast genome

(2013) Marco Ferrarini et al.   BMC GENOMICS

An Integrated Tool to Study MHC Region: Accurate SNV Detection and HLA Genes Typing in Human MHC Region Using Targeted High-Throughput Sequencing

(2013) Hongzhi Cao et al.   PLoS One

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

(2012) Katja Christodoulou et al.   GUT

Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities

(2012) Xi Lin et al.   HEARING RESEARCH

Interrogating the major histocompatibility complex with high-throughput genomics

(2012) P. I. W. de Bakker et al.   HUMAN MOLECULAR GENETICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

New Prediction Model for Probe Specificity in an Allele-Specific Extension Reaction for Haplotype-Specific Extraction (HSE) of Y Chromosome Mixtures

(2012) Jessica Rothe et al.   PLoS One

Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology

(2012) Adam C. English et al.   PLoS One

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

(2012) Karyn Steinberg et al.   Molecular Autism

Targeted enrichment of genomic DNA regions for next-generation sequencing

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

The MHC, disease and selection

(2011) John Trowsdale   IMMUNOLOGY LETTERS

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Comparing De Novo Genome Assembly: The Long and Short of It

(2011) Giuseppe Narzisi et al.   PLoS One

Array-Based Sequence Capture and Next-Generation Sequencing for the Identification of Primary Immunodeficiencies

(2011) S. Ghosh et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

(2010) Konstantinos Nikopoulos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Third Generation DNA Sequencing: Pacific Biosciences' Single Molecule Real Time Technology

(2010) Alice McCarthy   CHEMISTRY & BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Microtubule Actin Crosslinking Factor 1 Regulates the Balbiani Body and Animal-Vegetal Polarity of the Zebrafish Oocyte

(2010) Tripti Gupta et al.   PLoS Genetics

Methods for Genomic Partitioning

(2009) Emily H. Turner et al.   Annual Review of Genomics and Human Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

(2009) et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project

(2008) Roger Horton et al.   IMMUNOGENETICS