journal cover

Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data

bioRxiv

Jan 22, 2014

John G ClearyFrancisco M De La Vega

Abstract

The analysis of whole-genome or exome sequencing data from trios and pedigrees has being successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relation...read more

Mentioned in this Paper

Whole Genome Amplification
Sequencing
Silo (Dataset)
Single Nucleotide Polymorphism Database
Genetic Pedigree
Recombination, Genetic
Study
Titanium
Massively-Parallel Sequencing
High-Throughput RNA Sequencing
9
9
Paper Details
References
  • References
  • Citations
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations
  • quote and clock

    No citations available

    This paper may not have been cited yet.

Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data

bioRxiv

Jan 22, 2014

John G ClearyFrancisco M De La Vega

PMID: 990001958

DOI: 10.1101/001958

Abstract

The analysis of whole-genome or exome sequencing data from trios and pedigrees has being successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relation...read more

Mentioned in this Paper

Whole Genome Amplification
Sequencing
Silo (Dataset)
Single Nucleotide Polymorphism Database
Genetic Pedigree
Recombination, Genetic
Study
Titanium
Massively-Parallel Sequencing
High-Throughput RNA Sequencing
9
9

Related Papers

Paper Details
References
  • References
  • Citations
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations
  • quote and clock

    No citations available

    This paper may not have been cited yet.
/papers/joint-variant-and-de-novo-mutation-identification/990001958