Abstract

Exome and whole-genome sequencing for gene discovery: The future is now!

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Similar Papers

Paper Title
Journal
Date
Author
Short Read (Next-Generation) Sequencing
Jaya Punetha ... Eric P Hoffman
Circulation. Cardiovascular genetics | VOL. 6
Jaya Punetha, et. al.Jaya Punetha ... Eric P Hoffman
14 Jul 2013
Profile: NIH's disease detectives
Carrie Arnold
The Lancet | VOL. 380
Carrie ArnoldCarrie Arnold
01 Aug 2012
The NIH Undiagnosed Diseases Program
William A Gahl
JAMA | VOL. 305
William A GahlWilliam A Gahl
11 May 2011
Green Day: An Interview with NHGRI Director Eric Green
Eric D Green ... Kevin Davies
GEN biotechnology | VOL. 2
Eric D Green, et. al.Eric D Green ... Kevin Davies
01 Apr 2023
View more papers

More From: Human Mutation

Paper Title
Journal
Date
Author
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments
Bianca Zardetto ... Willeke Van Roon-Mom
Human Mutation | VOL. 2024
Bianca Zardetto, et. al.Bianca Zardetto ... Willeke Van Roon-Mom
29 May 2024
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort
Ece Sönmezler ... Cristiana Stuani
Human Mutation | VOL. 2024
Ece Sönmezler, et. al.Ece Sönmezler ... Cristiana Stuani
28 May 2024
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
Desiree Demille ... Claire L Shovlin
Human Mutation | VOL. 2024
Desiree Demille, et. al.Desiree Demille ... Claire L Shovlin
18 May 2024
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases
Ming Chen ... Jac C Charlesworth
Human Mutation | VOL. 2024
Ming Chen, et. al.Ming Chen ... Jac C Charlesworth
16 May 2024
View more papers