Nidhi Koundinya

6PUBLICATIONS
54CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Gene mappingCell and nuclear division
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Apr 18, 2026
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

|Mar 10, 2026
Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA.

Michelle D Noyes, Yang Sui, Youngjun Kwon

|Jan 23, 2026
Using the linear references from the pangenome to discover missing autism variants.

Yang Sui, Jiadong Lin, Michelle D Noyes

|Aug 04, 2025
The Platinum Pedigree: a long-read benchmark for genetic variants.

Zev Kronenberg, Cillian Nolan, David Porubsky

|Jul 09, 2025
Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.

David Porubsky, DongAhn Yoo, Philip C Dishuck

|Apr 24, 2025
Human de novo mutation rates from a four-generation pedigree reference.

David Porubsky, Harriet Dashnow, Thomas A Sasani

Pageof 1

Frequent Collaborators

6 joint publications

Evan E Eichler

6 joint publications

Katherine M Munson

4 joint publications

David Porubsky

4 joint publications

Peter M Lansdorp