journal cover

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

bioRxiv

Apr 2, 2018

Karthik A JagadeeshGill Bejerano

Abstract

Purpose: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative dis...read more

Mentioned in this Paper

Sequencing
Anatomical Space Structure
Exome
Whole Exome Sequencing
Gene Therapy
Genes
Genetic Markers
Genome
Phenotype Determination
Candidate Disease Gene
9
5
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.

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

bioRxiv

Apr 2, 2018

Karthik A JagadeeshGill Bejerano

PMID: 990225854

DOI: 10.1101/225854

Abstract

Purpose: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative dis...read more

Mentioned in this Paper

Sequencing
Anatomical Space Structure
Exome
Whole Exome Sequencing
Gene Therapy
Genes
Genetic Markers
Genome
Phenotype Determination
Candidate Disease Gene
9
5

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/phrank-measures-phenotype-sets-similarity-to/990225854