Related references
Note: Only part of the references are listed.TIGRA: A targeted iterative graph routing assembler for breakpoint assembly
Ken Chen et al.
GENOME RESEARCH (2014)
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
Justin M. Zook et al.
NATURE BIOTECHNOLOGY (2014)
SOAPindel: Efficient identification of indels from short paired reads
Shengting Li et al.
GENOME RESEARCH (2013)
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Stephen B. Montgomery et al.
GENOME RESEARCH (2013)
Sequence assembly demystified
Niranjan Nagarajan et al.
NATURE REVIEWS GENETICS (2013)
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
Gareth Highnam et al.
NUCLEIC ACIDS RESEARCH (2013)
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
Jason O'Rawe et al.
GENOME MEDICINE (2013)
Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
Heng Li
BIOINFORMATICS (2012)
lobSTR: A short tandem repeat profiler for personal genomes
Melissa Gymrek et al.
GENOME RESEARCH (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
De novo assembly and genotyping of variants using colored de Bruijn graphs
Zamin Iqbal et al.
NATURE GENETICS (2012)
Detection of structural variants and indels within exome data
Emre Karakoc et al.
NATURE METHODS (2012)
Fast gapped-read alignment with Bowtie 2
Ben Langmead et al.
NATURE METHODS (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Scoring-and-unfolding trimmed tree assembler: concepts, constructs and comparisons
Giuseppe Narzisi et al.
BIOINFORMATICS (2011)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
Dindel: Accurate indel calls from short-read data
Cornelis A. Albers et al.
GENOME RESEARCH (2011)
Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly
Yingrui Li et al.
NATURE BIOTECHNOLOGY (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
Fast and accurate long-read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2010)
Small insertions and deletions (INDELs) in human genomes
Julienne M. Mullaney et al.
HUMAN MOLECULAR GENETICS (2010)
Loss-of-function variants in the genomes of healthy humans
Daniel G. MacArthur et al.
HUMAN MOLECULAR GENETICS (2010)
The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
Gerald D. Fischbach et al.
NEURON (2010)
Insertion and Deletion Processes in Recent Human History
Per Sjodin et al.
PLOS ONE (2010)
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
Kai Ye et al.
BIOINFORMATICS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Mapping short DNA sequencing reads and calling variants using mapping quality scores
Heng Li et al.
GENOME RESEARCH (2008)
Repeat instability: Mechanisms of dynamic mutations
CE Pearson et al.
NATURE REVIEWS GENETICS (2005)