Exome Pool-Seq in neurodevelopmental disorders

Eur J Hum Genet. 2017 Dec;25(12):1364-1376. doi: 10.1038/s41431-017-0022-1. Epub 2017 Nov 20.

Abstract

High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function. Twenty five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) (ACTB, AHDC1, ANKRD11, ATP6V1B2, ATRX, CASK, CHD8, GNAS, IFIH1, KCNQ2, KMT2A, KRAS, MAOA, MED12, MED13L, RIT1, SETD5, SIN3A, TCF4, TRAPPC11, TUBA1A, WAC, ZBTB18, ZMYND11), two in 543 (SysID) candidate genes (ZNF292, BPTF), and additionally a de novo loss-of-function variant in LRRC7, not previously implicated in NDDs. Most of them were confirmed to be de novo, but we also identified X-linked or autosomal-dominantly or autosomal-recessively inherited variants. With a detection rate of 28%, Exome Pool-Seq achieves comparable results to individual exome analyses but reduces costs by >85%. Compared with other large scale approaches using Molecular Inversion Probes (MIP) or gene panels, it allows flexible re-analysis of data. Exome Pool-Seq is thus well suited for large-scale, cost-efficient and flexible screening in characterized but heterogeneous entities like NDDs.

Publication types

  • Evaluation Study

MeSH terms

  • Antigens, Nuclear / genetics
  • Carrier Proteins / genetics
  • Costs and Cost Analysis
  • Exome Sequencing / economics
  • Exome Sequencing / methods*
  • Exome Sequencing / standards
  • Female
  • Genetic Loci
  • Genetic Testing / economics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Male
  • Nerve Tissue Proteins / genetics
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / genetics*
  • Sensitivity and Specificity
  • Sialoglycoproteins / genetics
  • Transcription Factors / genetics

Substances

  • Antigens, Nuclear
  • Carrier Proteins
  • LRRC7 protein, human
  • Nerve Tissue Proteins
  • Sialoglycoproteins
  • Transcription Factors
  • ZNF292 protein, human
  • fetal Alzheimer antigen