Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.

Creator(s)

Emily G. Farrow, Children's Mercy HospitalFollow
Allison Jay
John C. Means, Children's Mercy HospitalFollow
Scott T. Younger, Children's Mercy HospitalFollow
Rebecca L. Biswell, Children's Mercy HospitalFollow
Boryana Koseva, Children's Mercy HospitalFollow
Isabelle Thiffault, Children's Mercy HospitalFollow
T Pastinen, Children's Mercy HospitalFollow
Kara Pappas
Helga Toriello

Document Type

Article

Publication Date

12-2023

Identifier

DOI: 10.1002/ajmg.a.63365

Journal Title

American journal of medical genetics. Part A

Volume

191

Issue

12

First Page

2908

Last Page

2912

MeSH Keywords

Humans; Base Sequence; Chromosome Mapping; High-Throughput Nucleotide Sequencing; Sequence Analysis, DNA

Keywords

Base Sequence; Chromosome Mapping; High-Throughput Nucleotide Sequencing; DNA Sequence Analysis

Recommended Citation

Farrow E, Jay A, Means J, et al. Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq. Am J Med Genet A. 2023;191(12):2908-2912. doi:10.1002/ajmg.a.63365