Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.
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Suitability of Different Mapping Algorithms for Genome-wide Polymorphism Scans with Pool-Seq DataPlasmacytoid dendritic cells appear inactive during sub-microscopic Plasmodium falciparum blood-stage infection, yet retain their ability to respond to TLR stimulationClinical correlation of calpain-1 and glypican-3 expression with gallbladder carcinoma.DeepSNVMiner: a sequence analysis tool to detect emergent, rare mutations in subsets of cell populationsMutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours.A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.Gain-of-function mutation causes human combined immune deficiency
P2860
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P2860
Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@ast
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@en
type
label
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@ast
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@en
prefLabel
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@ast
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@en
P2093
P2860
P1433
P1476
Reliably Detecting Clinically ...... ptimized Filtering Strategies.
@en
P2093
Matthew A Field
T Daniel Andrews
P2860
P304
P356
10.1371/JOURNAL.PONE.0143199
P407
P577
2015-11-23T00:00:00Z