Rare variant detection using family-based sequencing analysis
about
Using familial information for variant filtering in high-throughput sequencing studiesShort read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.FamSeq: a variant calling program for family-based sequencing data using graphics processing units.Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data.SeqMule: automated pipeline for analysis of human exome/genome sequencing dataA computational method for genotype calling in family-based sequencing dataA web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studiesRare variants detection with kernel machine learning based on likelihood ratio test.Estimating error models for whole genome sequencing using mixtures of Dirichlet-multinomial distributions.VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Joint detection of copy number variations in parent-offspring trios.Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia.DIAMUND: direct comparison of genomes to detect mutations.On the design and analysis of next-generation sequencing genotyping for a cohort with haplotype-informative reads.Family genome browser: visualizing genomes with pedigree information.mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.Precise detection of de novo single nucleotide variants in human genomes.HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data.geck: trio-based comparative benchmarking of variant calls
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P2860
Rare variant detection using family-based sequencing analysis
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Rare variant detection using family-based sequencing analysis
@ast
Rare variant detection using family-based sequencing analysis
@en
type
label
Rare variant detection using family-based sequencing analysis
@ast
Rare variant detection using family-based sequencing analysis
@en
prefLabel
Rare variant detection using family-based sequencing analysis
@ast
Rare variant detection using family-based sequencing analysis
@en
P2093
P2860
P356
P1476
Rare variant detection using family-based sequencing analysis
@en
P2093
Aung-Kyaw Chi
Curt Scharfe
E Cristy Ruteshouser
Peidong Shen
Ronald W Davis
Timothy B Palculict
Vicki Huff
Wenyi Wang
P2860
P304
P356
10.1073/PNAS.1222158110
P407
P577
2013-02-20T00:00:00Z