scispace - formally typeset
H

Harsha Doddapaneni

Researcher at Baylor College of Medicine

Publications -  4
Citations -  578

Harsha Doddapaneni is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Exome & Exome sequencing. The author has an hindex of 4, co-authored 4 publications receiving 457 citations. Previous affiliations of Harsha Doddapaneni include Baylor University.

Papers
More filters
Journal ArticleDOI

Lessons learned from additional research analyses of unsolved clinical exome cases

TL;DR: In this article, the authors designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e., unsolved clinical exomes).

Lessons learned from additional research analyses of unsolved clinical exome cases

TL;DR: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders.