ENAapplication/xmlftp.sra.ebi.ac.uk/vol1/fastq/SRR594/SRR594338/SRR594338_1.fastq.gzftp.sra.ebi.ac.uk/vol1/fastq/SRR592/SRR592742/SRR592742_1.fastq.gzftp.sra.ebi.ac.uk/vol1/fastq/SRR592/SRR592742/SRR592742_2.fastq.gzftp.sra.ebi.ac.uk/vol1/fastq/SRR594/SRR594338/SRR594338_2.fastq.gzftp.sra.ebi.ac.uk/vol1/fastq/SRR594/SRR594251/SRR594251_1.fastq.gzftp.sra.ebi.ac.uk/vol1/fastq/SRR594/SRR594251/SRR594251_2.fastq.gzprimaryOK2000000GenomicsCMGGhttps://www.ebi.ac.uk/ena/browser/view/PRJNA177656Homo sapiensIn this study we assess the accuracy and added value of mate pair analysis for the detection of structural variants including apparently balanced rearrangements as an alternative single platform method.ENAIntellectual Development Disorders, Mental, Intellectual Development Disorder, Retardation, Mental Retardation, Disorders, Disabilities, Mental retardation, Mental Deficiencies, Disability, Intellectual Disabilities, Deficiencies, Low intelligence, Poor school performance, Dull intelligence, Nonprogressive intellectual disability, Intellectual disability, Idiocy, connatal, Nonprogressive mental retardation, Intellectual, Mental-retardation, Client, nonspecific, Development Disorders, Psychosocial Mental, Psychosocial, Psychosocial Mental Retardations, Deficiency, Mental Deficiency, Psychosocial Mental Retardation, Patient, Clients, Disorder, Development Disorder, Mental deficiency, Retardations, Mental Retardations, Intellectual Development, inborn.human being, human., man0.00.00.00.00.00falseHomo sapiensMate pair sequencing for the detection of balanced and unbalanced chromosomal aberrations in patients with intellectual disability and congenital malformations2022-07-192013-05-31PRJNA1776569606