about
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectComparative analysis of the primate X-inactivation center region and reconstruction of the ancestral primate XIST locusVariable molecular clocks in hominoids.Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesFirst insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sortingUsing exome data to identify malignant hyperthermia susceptibility mutations.Evaluation of variant detection software for pooled next-generation sequence dataReplicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Uprobe 2008: an online resource for universal overgo hybridization-based probe retrieval and design.Comparative sequence analyses reveal sites of ancestral chromosomal fusions in the Indian muntjac genome.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaDynamic evolution of V1R putative pheromone receptors between Mus musculus and Mus spretus.Distinct retroelement classes define evolutionary breakpoints demarcating sites of evolutionary noveltyLight whole genome sequence for SNP discovery across domestic cat breedsLongitudinal shift in diabetic wound microbiota correlates with prolonged skin defense response.Gene-Specific Substitution Profiles Describe the Types and Frequencies of Amino Acid Changes during Antibody Somatic Hypermutation.Identification and characterization of multi-species conserved sequencesIn silico and functional studies of the regulation of the glucocerebrosidase gene.Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.Staphylococcus epidermidis pan-genome sequence analysis reveals diversity of skin commensal and hospital infection-associated isolates.A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesComparative sequencing provides insights about the structure and conservation of marsupial and monotreme genomesIntegrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcificationProgressive proximal expansion of the primate X chromosome centromere.Conversion events in gene clustersGenomic insights into Wnt signaling in an early diverging metazoan, the ctenophore Mnemiopsis leidyiAdaptive evolution of foundation kinetochore proteins in primates.Low incidence of DNA sequence variation in human induced pluripotent stem cells generated by nonintegrating plasmid expression.A W-linked palindrome and gene conversion in New World sparrows and blackbirds.BAC-based sequencing of behaviorally-relevant genes in the prairie vole.Evolution of a bitter taste receptor gene cluster in a New World sparrow.Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.Biogeography and individuality shape function in the human skin metagenomeGenetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.Single-molecule sequencing to track plasmid diversity of hospital-associated carbapenemase-producing Enterobacteriaceae.Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants
P50
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P50
name
NISC Comparative Sequencing Program
@en
type
label
NISC Comparative Sequencing Program
@en
prefLabel
NISC Comparative Sequencing Program
@en