RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

(2015) Stefan H. Lelieveld et al.   HUMAN MUTATION

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

(2014) V. Obenchain et al.   BIOINFORMATICS

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Graph-based modeling of tandem repeats improves global multiple sequence alignment

(2013) Adam M. Szalkowski et al.   NUCLEIC ACIDS RESEARCH

Variant Callers for Next-Generation Sequencing Data: A Comparison Study

(2013) Xiangtao Liu et al.   PLoS One

Comparative analysis of tandem repeats from hundreds of species reveals unique insights into centromere evolution

(2013) Daniël P Melters et al.   GENOME BIOLOGY

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS