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Keyword Connections - exome Keywords

Connection Type	Connection
Journals	PloS one American journal of human genetics journal of autism and developmental disorders Genetics in medicine : official journal of the American College of Medical Genetics
Research Groups	No Research Group Connected
Bibliographies	[1] additional mechanisms conferring genetic susceptibility to alzheimer's disease [2] Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. [3] Isotopic reconstruction of the weaning process in the archaeological population of Canímar Abajo, Cuba: A Bayesian probability mixing model approach. [4] EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics [5] VCF/Plotein: Visualisation and prioritisation of genomic variants from human exome sequencing projects. [6] Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. [7] A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing. [8] Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. [9] Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. [10] Primary care physicians' understanding and utilization of pediatric exome sequencing results. [11] Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns [12] Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes [13] Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders [14] Criteria for reporting incidental findings in clinical exome sequencing - A focus group study on professional practices and perspectives in Belgian genetic centres [15] A linkage and exome study implicates rare variants of KANK4 and CAP2 in bipolar disorder in a multiplex family. [16] SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes. [17] Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans. [18] Whole Exome Sequencing Identifies a Novel Pathogenic Variation [p.(Gly194Valfs*7)] in SLC45A2 in the Homozygous State in Multiple Members of a Family in Southern India Affected with Oculocutaneous Albinism. [19] Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. [20] Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. [21] Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. [22] the number of candidate variants in exome sequencing for mendelian disease under no genetic heterogeneity [23] affected kindred analysis of human x chromosome exomes to identify novel x-linked intellectual disability genes. [24] whole exome sequencing reveals severe thrombophilia in acute unprovoked idiopathic fatal pulmonary embolism [25] trio clinical exome sequencing in a patient with multicentric carpotarsal osteolysis syndrome: first case report in the balkans [26] a survey of computational tools to analyze and interpret whole exome sequencing data [27] identification of a case of srd5a3-congenital disorder of glycosylation (cdg1q) by exome sequencing [28] the exometabolome of two model strains of the roseobacter group: a marketplace of microbial metabolites [29] effect of next-generation exome sequencing depth for discovery of diagnostic variants [30] a combined linkage and exome sequencing analysis for electrocardiogram parameters in the erasmus rucphen family study [31] exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways [32] dosage compléxométrique rapide du calcium dans les moûts et les vins [33] identification of a novel collagen type iv alpha-4 (col4a4) mutation in a chinese family with autosomal dominant alport syndrome using exome sequencing [34] balsa: integrated secondary analysis for whole-genome and whole-exome sequencing, accelerated by gpu [35] thiamine pyrophosphokinase deficiency causes a leigh disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies [36] whole exome sequencing reveals compound heterozygosity for ethnically distinct pex7 mutations responsible for rhizomelic chondrodysplasia punctata, type 1 [37] meta-analysis of exome array data identifies six novel genetic loci for lung function [version 3; referees: 2 approved] [38] exome sequencing for mucolipidosis iii: detection of a novel gnptab gene mutation in a patient with a very mild phenotype [39] an atypical presentation of acad9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach [40] failure of recommended in vitro tests to detect a leak in flexometallic endotracheal tube cuff system: are we really safe? [41] Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.