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The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …
genotype and phenotype, making possible carrier and population screening and direct …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …
coding genetic variants. However, patients with the same genetic defect can have different …
The GA4GH Phenopacket schema defines a computable representation of clinical data
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella… - European Journal of …, 2017 - nature.com
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …
disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES) …