Discovery of rare variants implicated in schizophrenia using next-generation sequencing.
PMID:33981965
CRISPR-Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis.
PMID:28169275
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
PMID:26380986
A programmable method for massively parallel targeted sequencing.
PMID:24782526
Solution-based targeted genomic enrichment for precious DNA samples.
PMID:22559009
A rapid, cost-effective method of assembly and purification of synthetic DNA probes >100 bp.
PMID:22493688
Tracking and coordinating an international curation effort for the CCDS Project.
PMID:22434842
Improving bioinformatic pipelines for exome variant calling.
PMID:22289516
Targeted sequencing library preparation by genomic DNA circularization.
PMID:22168766
The Human OligoGenome Resource: a database of oligonucleotide capture probes for resequencing target regions across the human genome.
PMID:22102592
A cross-sample statistical model for SNP detection in short-read sequencing data.
PMID:22064853
Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing.
PMID:22020387
Ultrasensitive detection of rare mutations using next-generation targeted resequencing.
PMID:22013163