Mahdi Sarmady

发表

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

Chunhua Weng, Mengge Zhao, James M Havrilla, 2020, NAR genomics and bioinformatics.

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Mahdi Sarmady, Rashesh V. Sanghvi, Christian J. Buhay, 2017, Genetics in Medicine.

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel.

Mahdi Sarmady, Perry Evans, Rojeen Niazi, 2018, The Journal of molecular diagnostics : JMD.

AnthOligo: Automating the design of oligonucleotides for capture/enrichment technologies

Deborah Ferriola, Dimitri S. Monos, Mahdi Sarmady, 2019, bioRxiv.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Eric Marsh, 2018, Genetics in Medicine.

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing

Mahdi Sarmady, Marilyn M. Li, Mark Welsh, 2019, bioRxiv.

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing.

Mahdi Sarmady, Chao Wu, Kajia Cao, 2019, Clinical chemistry.

ExomeSlicer: a resource for the development and validation of exome-based clinical panels

Mahdi Sarmady, Perry Evans, Rojeen Niazi, 2018 .

Bamchop: A bioinformatics utility to summarize and visualize exome and other types of targeted resequencing data

Zhe Zhang, Mahdi Sarmady, Peter S. White, 2012, 2012 IEEE International Conference on Bioinformatics and Biomedicine Workshops.

Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing

Deborah Ferriola, Mahdi Sarmady, Anh Dinh, 2020, Human immunology.

AnthOligo: Automating the design of oligonucleotides for capture/enrichment technologies.

Deborah Ferriola, Chao Wu, Mahdi Sarmady, 2020, Bioinformatics.

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

Chunhua Weng, Mengge Zhao, James M Havrilla, 2019, bioRxiv.

Efficient digest of high-throughput sequencing data in a reproducible report

Zhe Zhang, Mahdi Sarmady, Peter S. White, 2013, BMC Bioinformatics.

Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders

Mahdi Sarmady, Avni Santani, Kajia Cao, 2015, American journal of medical genetics. Part A.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

A comparison of survival analysis methods for cancer gene expression RNA-Sequencing data.

Mahdi Sarmady, Jessica C. Mar, Jeremy Leipzig, 2019, Cancer genetics.

mtDNA Variation and Analysis Using Mitomap and Mitomaster

Mahdi Sarmady, Vincent Procaccio, Jeremy Leipzig, 2013, Current protocols in bioinformatics.

HIV Protein Sequence Hotspots for Crosstalk with Host Hub Proteins

Mahdi Sarmady, A. Tozeren, Mahdi Sarmady, 2011, PloS one.