Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Martin Kircher

3PUBLICATIONS
2CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Phylogeny and comparative analysisEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (3)

Sort by Publication Date:
|Jul 30, 2015
Running spell-check to identify regulatory variants.

Martin Kircher, Jay Shendure

|Apr 12, 2014
Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX.

Mikkel Schubert, Luca Ermini, Clio Der Sarkissian

|Feb 04, 2014
A general framework for estimating the relative pathogenicity of human genetic variants.

Martin Kircher, Daniela M Witten, Preti Jain

Pageof 1

Frequent Collaborators

1 joint publications

Gregory M Cooper

1 joint publications

Mikkel Schubert

Frequent Collaborators

1 joint publications

Gregory M Cooper

1 joint publications

Mikkel Schubert

Top Related Videos

Identification and Classification of Position-specific GABA<sub>A</sub> Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABA<sub>A</sub> Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on : Jun 06, 2025

1.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on : Jun 21, 2018

9.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

10.2K
See more related videos

Top Related Videos

Identification and Classification of Position-specific GABA<sub>A</sub> Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABA<sub>A</sub> Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on : Jun 06, 2025

1.7K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on : Jun 21, 2018

9.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on : Jan 16, 2019

10.2K
See more related videos