Next generation sequencing and the future of genetic diagnosis.
about
Next generation sequencing: Coping with rare genetic diseases in ChinaMalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured searchUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsReplicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Next-generation sequencing of the human TRPV1 gene and the regulating co-players LTB4R and LTB4R2 based on a custom AmpliSeq™ panelIdentification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in KoreaManagement of Incidental Findings in the Era of Next-generation SequencingRapid targeted somatic mutation analysis of solid tumors in routine clinical diagnosticsGut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood-Adulthood Transition.Next-generation sequencing of human opioid receptor genes based on a custom AmpliSeq™ library and ion torrent personal genome machineGenomic newborn screening: public health policy considerations and recommendations.Genomics in CKD: Is This the Path Forward?Understanding self-management behaviors in symptomatic adults with uncertain etiology using an illness perceptions framework.Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Laboratory diagnosis of thalassemia.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Exploiting the potential of next-generation sequencing in genomic medicine.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.Update on the Genetics of Dystonia.Dynamic Changes in the Splenic Transcriptome of Chickens during the Early Infection and Progress of Marek's Disease.Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationNeurogenetic disease: genes, mechanisms, and future promise.Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.A license to cure?Development of an AmpliSeq Panel for Next-Generation Sequencing of a Set of Genetic Predictors of Persisting PainCurrent controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
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Next generation sequencing and the future of genetic diagnosis.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Next generation sequencing and the future of genetic diagnosis.
@en
type
label
Next generation sequencing and the future of genetic diagnosis.
@en
prefLabel
Next generation sequencing and the future of genetic diagnosis.
@en
P2860
P1433
P1476
Next generation sequencing and the future of genetic diagnosis.
@en
P2093
Christine Klein
Katja Lohmann
P2860
P2888
P304
P356
10.1007/S13311-014-0288-8
P577
2014-10-01T00:00:00Z