Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
about
Making the most of RNA-seq: Pre-processing sequencing data with Opossum for reliable SNP variant detection.Genetics of Disorders of Sex Development: The DSD-TRN Experience.Genetic diagnosis of Mendelian disorders via RNA sequencing.A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Single subject transcriptome analysis to identify functionally signed gene set or pathway activity.Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation."Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.The role of the clinician in the multi-omics era: are you ready?The functional genomics laboratory: functional validation of genetic variants.Hypertrophic Cardiomyopathy Gene Testing: Go Big?The Expanding Landscape of Alternative Splicing Variation in Human Populations.MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databasesIntegrative omics for health and disease.An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Single Nucleotide Variant Counts Computed from RNA Sequencing and Cellular Traffic into Human Kidney Allografts.Recent advances in the detection of repeat expansions with short-read next-generation sequencing.Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.TAP: a targeted clinical genomics pipeline for detecting transcript variants using RNA-seq data
P2860
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P2860
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@en
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@nl
type
label
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@en
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@nl
prefLabel
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@en
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@nl
P2093
P2860
P50
P1476
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
@en
P2093
A Reghan Foley
Ben Weisburd
Daniel Birnbaum
Francesco Muntoni
Gina L O'Grady
James J Dowling
Jamie L Marshall
Leigh B Waddell
Monkol Lek
P2860
P356
10.1126/SCITRANSLMED.AAL5209
P407
P50
P577
2017-04-01T00:00:00Z