novoSNP, a novel computational tool for sequence variation discovery.
about
Systematic association mapping identifies NELL1 as a novel IBD disease geneNovel insights into the bovine polled phenotype and horn ontogenesis in BovidaeA deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus)Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IMapping short DNA sequencing reads and calling variants using mapping quality scoresParoxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.SNP discovery via 454 transcriptome sequencingSNPdetector: a software tool for sensitive and accurate SNP detection.Shotgun haplotyping: a novel method for surveying allelic sequence variation.A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breedsIncreased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathyA newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitisDetection of haplotypes associated with prenatal death in dairy cattle and identification of deleterious mutations in GART, SHBG and SLC37A2A Bayesian Model for SNP Discovery Based on Next-Generation Sequencing Data.PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data.QualitySNP: a pipeline for detecting single nucleotide polymorphisms and insertions/deletions in EST data from diploid and polyploid species.SNP-PHAGE--High throughput SNP discovery pipeline.A novel approach to sequence validating protein expression clones with automated decision makingHaploSNPer: a web-based allele and SNP detection tool.Decoding of superimposed traces produced by direct sequencing of heterozygous indelsVarDetect: a nucleotide sequence variation exploratory tool.High-throughput genetic mapping of mutants via quantitative single nucleotide polymorphism typingMutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitisCorrelation in chicken between the marker LEI0258 alleles and Major Histocompatibility Complex sequences.SNP detection for massively parallel whole-genome resequencing.Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationIdentification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.SNPs in genes functional in starch-sugar interconversion associate with natural variation of tuber starch and sugar content of potato (Solanum tuberosum L.).TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohortPromoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease.Natural variation of salinity response, population structure and candidate genes associated with salinity tolerance in perennial ryegrass accessions.Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataractHigh-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.DiSNPindel: improved intra-individual SNP and InDel detection in direct amplicon sequencing of a diploidNAT2 variants are associated with drug-induced liver injury caused by anti-tuberculosis drugs in Indonesian patients with tuberculosis.
P2860
Q21090112-A99E91B5-9A94-432E-9F41-5F1AB4EEB9B7Q21090752-6CDB774F-0F67-4F8A-94BA-7251975C0C16Q21135469-7B4B6367-D3B9-48E8-96FD-5A8E92D14611Q24301846-4851D7B9-60B0-4146-B0CF-1608E584A859Q24644612-CD459BB4-22A9-45B4-9D31-9F049396FCF2Q24648494-AAFC7B5C-EF6A-417E-8F52-D5B6963904CAQ24680247-DE8E2DC8-0E25-47BB-ACF5-1CAE8C80F699Q24811811-CDFBC9FB-2542-4F88-BE65-24665BCADDA1Q24811922-F3D817CC-B66B-48C6-939B-C70839819675Q26779566-0542346C-7AA6-4373-BA79-A9692F05C2B5Q28115297-EF4243FF-7B9B-4FBE-BA35-05D496B60B6DQ28742339-167761F1-BDCA-4508-8552-E5B7EFB27EB3Q28943481-E9FBB6A9-E1E2-4E02-B460-62344ABAE584Q30431871-E0DB476E-B8F5-4B1F-B20F-27719C559C1AQ31034868-CC561766-CF98-42BB-B092-AA1F7AC712CEQ31108463-9954213A-A0ED-41E1-BA15-BC6DDDC2F62DQ33259835-18F647E8-4D75-4B62-8087-7D1B0E56E375Q33261264-0B625624-9105-4351-8465-BD7F69930437Q33287613-14F60B12-D203-4A91-8282-3A849649C0FFQ33321709-1E742424-9A96-4EB5-A2A6-28C07962FF8BQ33354925-C41A0377-D1CC-4BDA-9F1A-F317B0F049E6Q33393974-174A75FE-3478-4B36-B4B7-DF0899B322BFQ33628423-4C766508-98F1-4D8D-A1C0-D855FDB87E6AQ33682175-E501BF88-5F52-4E69-B5D5-D80F08D1190CQ33924388-1690C86F-5C76-4D6B-A2BD-3ABC44D44BE8Q34017409-FB0D9D1A-3A5D-40BC-99E5-75C6000A15C0Q34030728-9A7F9BFC-93AD-4891-B7A7-E3B13AB70BF2Q34038343-D9976221-1740-4674-8597-F8ED8DE9BFE5Q34267003-CAC4AF4A-3EC1-4D70-AD52-0960FED050E6Q34351991-FA59E4F0-56DB-4941-8D20-2C535AD75C57Q34605483-58CBB229-D592-4EC9-B629-E6BECB25E444Q34658251-481B4EE9-9819-49F9-83A9-3D6EE848579DQ34659203-5B6CD2C4-24AF-48E9-981D-06BB14BF99C7Q34718407-CF43AF87-0C7B-4ED3-A554-D6A9199B6CACQ34977472-054BDFC6-E583-40BB-8752-69B263025E74Q34995414-D3DE2055-CE45-41F5-9387-3A01A489EC75Q35648157-592607FA-EEDE-4BE5-A9D1-CA33CC5ED447Q35811899-B2900C51-40BB-46FA-862B-EFE494417707Q35820352-6707FD86-52B7-40A5-97F2-918261DB767AQ35934555-25D843AF-E75D-4A67-96A6-036CF0FA6C41
P2860
novoSNP, a novel computational tool for sequence variation discovery.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
novoSNP, a novel computational tool for sequence variation discovery.
@en
type
label
novoSNP, a novel computational tool for sequence variation discovery.
@en
prefLabel
novoSNP, a novel computational tool for sequence variation discovery.
@en
P2093
P2860
P50
P356
P1433
P1476
novoSNP, a novel computational tool for sequence variation discovery.
@en
P2093
Jurgen Del-Favero
Lieve Claes
Marc Cruts
Peter De Jonghe
Stefan Weckx
P2860
P304
P356
10.1101/GR.2754005
P577
2005-03-01T00:00:00Z