Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.
暂无分享,去创建一个
V. Jobanputra | K. Wrzeszczynski | A. Abhyankar | Lukasz Kozon | Ferrah London | M. Ronemus | I. Hakker | P. Andrews | V. Felice | D. Robinson
[1] D. Concolino,et al. The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders , 2018, High-throughput.
[2] X. Ji,et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions , 2018, BMC medical genomics.
[3] E. Thorland,et al. Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays , 2018, Genetics in Medicine.
[4] A. Prasad,et al. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis , 2018, BMC Medical Genetics.
[5] J. R. MacDonald,et al. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data. , 2018, American journal of human genetics.
[6] Clara Gaff,et al. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions , 2017, JAMA pediatrics.
[7] J. Rosenfeld,et al. Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies , 2016, Journal of Pediatric Genetics.
[8] J. Kendall,et al. SMASH, a fragmentation and sequencing method for genomic copy number analysis , 2016, Genome research.
[9] Michael Brudno,et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine , 2016, npj Genomic Medicine.
[10] Davis J. McCarthy,et al. Factors influencing success of clinical genome sequencing across a broad spectrum of disorders , 2015, Nature Genetics.
[11] Magalie S Leduc,et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.
[12] Hutton M. Kearney,et al. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 , 2013, Genetics in Medicine.
[13] B. Yamrom,et al. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease , 2013, Human Genetics.
[14] Shashikant Kulkarni,et al. Assuring the quality of next-generation sequencing in clinical laboratory practice , 2012, Nature Biotechnology.
[15] J. Mulvihill,et al. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents , 2012, Genetics in Medicine.
[16] Kenny Q. Ye,et al. Reducing system noise in copy number data using principal components of self-self hybridizations , 2011, Proceedings of the National Academy of Sciences.
[17] S. Schwartz,et al. UPD detection using homozygosity profiling with a SNP genotyping microarray , 2011, American journal of medical genetics. Part A.
[18] Harry Campbell,et al. Genomic Runs of Homozygosity Record Population History and Consanguinity , 2010, PloS one.
[19] L. Hudgins,et al. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities , 2010, Genetics in Medicine.
[20] Leslie G Biesecker,et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.
[21] Allen D. Delaney,et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization , 2009, BMC Genomics.
[22] Christa Lese Martin,et al. Microarray analysis for constitutional cytogenetic abnormalities , 2007, Genetics in Medicine.
[23] J. Moeschler,et al. Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays , 2006, Pediatrics.
[24] J. Sebat,et al. Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements , 2005, Genetics in Medicine.
[25] M. Wigler,et al. Circular binary segmentation for the analysis of array-based DNA copy number data. , 2004, Biostatistics.