Offers genome structural information pertaining to Asian populations in a familiar graphical comparative view. PanSNPdb offers pre-computed information of linkage disequilibrium (LD) blocks and their haplotypes on each chromosome. The comprehensive information in this database can be considered as worldwide data collection, but with special emphasis on Asian populations. The Haploview tool is also integrated into the PanSNPdb website: users can adjust the haplotype inferencing parameters in order to recalculate haplotype blocks ‘‘on-the-fly’’.
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Provides access to the annotations and summary statistics of The Taiwan Biobank (TWB). Taiwan View is a database that contains chromosome, position, single nucleotide polymorphism (SNP) ID, reference allele, alternative allele, counts of three genotypes, and call rate. It also provides an online query webpage for SNP information and an online genome-wide association study (GWAS) platform that allows users to upload their genotype data and perform GWASs using the Cochran–Armitage trend test.
Deals with human mutations detected throughout the turkish population. Turkish Human Mutation Database is a downloadable repository which compiles both clinical and experimental information with the aim of providing a standardized resource to study mutation at a national scale.
Supports real-time high-performance searches using a web search engine and a genome browser. VCGDB is a dynamic genome database of the Chinese population based on whole-genome sequencing (WGS) of 194 individuals. This resource offers a strategy for processing large amounts of genomic data and is a robust database for genomics and disease-related studies in the Chinese population.
A comprehensive database established to offer a web-based access to founder mutation data in Mediterranean population. The database provides an overview about the spectrum of founder mutations found in Mediterranean population to the scientific community. Furthermore, MFMD will help scientists to design more efficient diagnostic tests and provides beneficial information to understand the history and the migration events of the Mediterranean population.
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Discover our proposed protocols.
They are easy to use or edit to meet your needs.
They are easy to use or edit to meet your needs.
Novel therapeutic strategy for cervical cancer harboring FGFR3 TACC3 fusions
Tools (8):
Trimmomatic, BWA, SAMtools, Picard, GATK, ANNOVAR, Control-FREEC, HGVD
Topics (2):
WGS analysis, WES analysis
Whole exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera
Tools (4):
BWA, GATK, BasePlayer, SISu
Topics (18):
CAGE analysis, DNase-seq analysis, Ribo-seq analysis, WGS analysis, WES analysis, De novo sequencing analysis, RNA-seq analysis, ChIP-seq analysis, sRNA-seq analysis, Metatranscriptomic sequencing analysis, Metagenomic sequencing analysis, CLIP-seq analysis, GBS analysis, Rep-seq analysis, Homo sapiens, Neoplasms, Hematologic Neoplasms, Bone Marrow Diseases
Targeted next generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis
Tools (4):
Picard, GATK, SnpEff, KRGDB
Topics (19):
CAGE analysis, WGS analysis, WES analysis, RNA-seq analysis, sRNA-seq analysis, Amplicon sequencing analysis, RAD-seq analysis, Homo sapiens, Anemia, Anemia, Hyperbilirubinemia, Anemia, Anemia, Hemolytic, Congenital, Hypertrophy, Genetic Diseases, Inborn, Bile Pigments, Heterocyclic Compounds, 4 or More Rings, Azoles, Tetrapyrroles
A novel UBE2A mutation causes X linked intellectual disability type Nascimento
Tools (5):
BWA, Picard, GATK, ANNOVAR, HGVD
Topics (14):
CAGE analysis, WGS analysis, WES analysis, RNA-seq analysis, Amplicon sequencing analysis, RAD-seq analysis, Homo sapiens, Congenital Abnormalities, Abnormalities, Drug-Induced, Cataract, Immunologic Deficiency Syndromes, Movement Disorders, Skin Diseases, Genetic Diseases, X-Linked
A novel BBS10 mutation identified in a patient with Bardet–Biedl syndrome with a violent emotional outbreak
Tools (4):
BWA, GATK, Picard, iJGVD
Topics (16):
CAGE analysis, DNase-seq analysis, Ribo-seq analysis, WGS analysis, WES analysis, De novo sequencing analysis, RNA-seq analysis, ChIP-seq analysis, sRNA-seq analysis, Metatranscriptomic sequencing analysis, Metagenomic sequencing analysis, CLIP-seq analysis, Amplicon sequencing analysis, GBS analysis, RAD-seq analysis, Rep-seq analysis