about
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibilityHuman USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Multiplexed chromosome conformation capture sequencing for rapid genome-scale high-resolution detection of long-range chromatin interactions.Insight in genome-wide association of metabolite quantitative traits by exome sequence analysesRNAome sequencing delineates the complete RNA landscape.Deciphering the RNA landscape by RNAome sequencing.The dystrophin gene and cognitive function in the general population.RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses.Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease.DRAW+SneakPeek: analysis workflow and quality metric management for DNA-seq experimentsNext generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.MLL fusion-driven activation of CDK6 potentiates proliferation in MLL-rearranged infant ALL.Global quantitative proteomics reveals novel factors in the ecdysone signaling pathway in Drosophila melanogaster.HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.GATA1-Deficient Dendritic Cells Display Impaired CCL21-Dependent Migration toward Lymph Nodes Due to Reduced Levels of Polysialic Acid.Exome-sequencing in a large population-based study reveals a rare Asn396Ser variant in the LIPG gene associated with depressive symptoms.Genome instability in Lactobacillus rhamnosus GG.Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.Exome-Wide Meta-Analysis Identifies Rare 3'-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea.Germline variant in MSX1 identified in a Dutch family with clustering of Barrett's esophagus and esophageal adenocarcinoma.A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
NARWHAL, a primary analysis pipeline for NGS data.
@ast
NARWHAL, a primary analysis pipeline for NGS data.
@en
NARWHAL, a primary analysis pipeline for NGS data.
@nl
type
label
NARWHAL, a primary analysis pipeline for NGS data.
@ast
NARWHAL, a primary analysis pipeline for NGS data.
@en
NARWHAL, a primary analysis pipeline for NGS data.
@nl
prefLabel
NARWHAL, a primary analysis pipeline for NGS data.
@ast
NARWHAL, a primary analysis pipeline for NGS data.
@en
NARWHAL, a primary analysis pipeline for NGS data.
@nl
P2093
P2860
P356
P1433
P1476
NARWHAL, a primary analysis pipeline for NGS data
@en
P2093
F G Grosveld
M C G N van den Hout
R W W Brouwer
P2860
P304
P356
10.1093/BIOINFORMATICS/BTR613
P407
P577
2011-11-08T00:00:00Z