Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
about
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxiaDNA fingerprinting in zoology: past, present, futureGFP-based fluorescence assay for CAG repeat instability in cultured human cellsChallenges in analysis and interpretation of microsatellite data for population genetic studiesRapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencingVNTRseek-a computational tool to detect tandem repeat variants in high-throughput sequencing data.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineAccurate de novo and transmitted indel detection in exome-capture data using microassembly.Reducing INDEL calling errors in whole genome and exome sequencing data.Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.Indel variant analysis of short-read sequencing data with Scalpel.Large-scale analysis of tandem repeat variability in the human genomeDigital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.The landscape of human STR variation.Genome-wide profiling of heritable and de novo STR variations.The overdue promise of short tandem repeat variation for heritability.The challenge of small-scale repeats for indel discovery.STaRRRT: a table of short tandem repeats in regulatory regions of the human genome.TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.Analytical validation of whole exome and whole genome sequencing for clinical applicationsMIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals.The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiologyAssembly and diploid architecture of an individual human genome via single-molecule technologies.Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.Population analysis of microsatellite genotypes reveals a signature associated with ovarian cancer.PSR: polymorphic SSR retrievalPopulation-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation RatesShort tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent treeSTR-realigner: a realignment method for short tandem repeat regions.CRISPR-Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis.Polymorphic tandem repeats within gene promoters act as modifiers of gene expression and DNA methylation in humans.ReviSTER: an automated pipeline to revise misaligned reads to simple tandem repeats.MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch RepairPopulation-scale analysis of human microsatellites reveals novel sources of exonic variation.Exceptionally long-range haplotypes in Plasmodium falciparum chromosome 6 maintained in an endemic African population.Inferring short tandem repeat variation from paired-end short reads.Discretized Gaussian mixture for genotyping of microsatellite loci containing homopolymer runs.A SNP profiling panel for sample tracking in whole-exome sequencing studies.Systematic Profiling of Short Tandem Repeats in the Cattle Genome.The fractured genome of HeLa cells.
P2860
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P2860
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Accurate human microsatellite ...... using informed error profiles.
@ast
Accurate human microsatellite ...... using informed error profiles.
@en
type
label
Accurate human microsatellite ...... using informed error profiles.
@ast
Accurate human microsatellite ...... using informed error profiles.
@en
prefLabel
Accurate human microsatellite ...... using informed error profiles.
@ast
Accurate human microsatellite ...... using informed error profiles.
@en
P2093
P2860
P356
P1476
Accurate human microsatellite ...... using informed error profiles.
@en
P2093
Andy Martin
Ashwin Puthige
Calvin Stephens
Christopher Franck
David Mittelman
Gareth Highnam
P2860
P356
10.1093/NAR/GKS981
P407
P577
2012-10-22T00:00:00Z