Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance Academic Article uri icon

Overview

MeSH Major

  • Algorithms
  • Arabs
  • Diabetes Mellitus
  • Genome, Human
  • Genome-Wide Association Study
  • Heredity
  • High-Throughput Nucleotide Sequencing
  • Obesity
  • Polymorphism, Single Nucleotide
  • Rare Diseases

abstract

  • Both pipelines, GATK multi-sample calling and Illumina CASAVA single sample calling, have highly similar performance in SNP calling at the level of putatively causative variants.

publication date

  • January 2014

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4216909

Digital Object Identifier (DOI)

  • 10.1186/1756-0500-7-747

PubMed ID

  • 25339461

Additional Document Info

start page

  • 747

volume

  • 7