Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.
PMID:32404357
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.
PMID:30364188
Prioritization and functional assessment of noncoding variants associated with complex diseases.
PMID:29996888
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
PMID:29926981
A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.
PMID:28730073
Mutations in the TMCO3 Gene are Associated with Cornea Guttata and Anterior Polar Cataract.
PMID:27484837
Exome sequencing identifies novel compound heterozygous IFNA4 and IFNA10 mutations as a cause of impaired function in Crohn's disease patients.
PMID:26000985
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa.
PMID:25783483
Arioc: high-throughput read alignment with GPU-accelerated exploration of the seed-and-extend search space.
PMID:25780763
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
PMID:25765891
Genome-wide candidate regions for selective sweeps revealed through massive parallel sequencing of DNA across ten turkey populations.
PMID:25421611
Genetic landscape of esophageal squamous cell carcinoma.
PMID:25151357
The personal genome browser: visualizing functions of genetic variants.
PMID:24799434
Identification of functional cooperative mutations of SETD2 in human acute leukemia.
PMID:24509477
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
PMID:24113144
Whole-genome sequences of DA and F344 rats with different susceptibilities to arthritis, autoimmunity, inflammation and cancer.
PMID:23695301
Double restriction-enzyme digestion improves the coverage and accuracy of genome-wide CpG methylation profiling by reduced representation bisulfite sequencing.
PMID:23324053
Whole genome SNP discovery and analysis of genetic diversity in Turkey (Meleagris gallopavo).
PMID:22891612
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
PMID:22693542
High resolution profiling of human exon methylation by liquid hybridization capture-based bisulfite sequencing.
PMID:22151801
TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology.
PMID:21051338
Data structures and compression algorithms for high-throughput sequencing technologies.
PMID:20946637
Large scale single nucleotide polymorphism discovery in unsequenced genomes using second generation high throughput sequencing technology: applied to turkey.
PMID:19835600
Data structures and compression algorithms for genomic sequence data.
PMID:19447783