Factors influencing success of clinical genome sequencing across a broad spectrum of disorders - Test2 - elhamkhani - TriplyDB

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

http://www.wikidata.org/entity/Q36147983

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A Genetic-Pathophysiological Framework for Craniosynostosis The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery New insights into craniofacial malformations Epidemiology and Diagnosis of Hypoparathyroidism.Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Semantic prioritization of novel causative genomic variants Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.Non-coding genetic variants in human disease.Genomic approaches for understanding the genetics of complex disease.ReliableGenome: annotation of genomic regions with high/low variant calling concordance.Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.Newborn screening and the era of medical genomics.Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine.Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)An atlas of gene expression and gene co-regulation in the human retina.A 2.5-year snapshot of Mendelian discovery.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.Alternate-locus aware variant calling in whole genome sequencing.A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.Clinical exome sequencing: results from 2819 samples reflecting 1000 families.Whole exome sequencing in patients with white matter abnormalities.Diagnostic value of exome and whole genome sequencing in craniosynostosis.Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.Exome sequencing explained: a practical guide to its clinical application.Expect the unexpected: screening for secondary findings in clinical genomics research.High-throughput Phenotyping of Lung Cancer Somatic Mutations Mining the Unknown: Assigning Function to Noncoding Single Nucleotide Polymorphisms.A Clinician's perspective on clinical exome sequencing.Identification and Function of Enhancers in the Human Genome.Critical points for an accurate human genome analysis.AKT: ancestry and kinship toolkit.

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A high-resolution anatomical atlas of the transcriptome in the mouse embryo

Human genome sequencing in health and disease

An integrated map of genetic variation from 1,092 human genomes

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

Clinical application of exome sequencing in undiagnosed genetic conditions

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

Runs of homozygosity in European populations

Fast and accurate short read alignment with Burrows-Wheeler transform

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

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