Long‐read HiFi sequencing of <i>NUDT15</i> : Phased full‐gene haplotyping and pharmacogenomic allele discovery-Reference-Cited by-同舟云学术

Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery

Published:2022-09-12 Issue:11 Volume:43 Page:1557-1566
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Scott Erick R.¹,Yang Yao¹^ORCID,Botton Mariana R.¹²^ORCID,Seki Yoshinori¹,Hoshitsuki Keito³⁴^ORCID,Harting John⁵,Baybayan Primo⁵,Cody Neal¹²,Nicoletti Paola¹²,Moriyama Takaya⁴,Chakraborty Shreyasee⁵,Yang Jun J.⁴,Edelmann Lisa¹²,Schadt Eric E.¹²,Korlach Jonas⁵^ORCID,Scott Stuart A.¹²^ORCID

Affiliation:

1. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

2. Sema4 Stamford Connecticut USA

3. School of Pharmacy University of Pittsburgh Pennsylvania Pittsburgh USA

4. Department of Pharmaceutical Sciences St. Jude Children's Research Hospital Memphis Tennessee USA

5. Pacific Biosciences Menlo Park California USA

Funder

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24457

Reference37 articles.

1. Single-Molecule Sequencing: Towards Clinical Applications

2. Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

3. Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing

4. NGSUtils: a software suite for analyzing and manipulating next-generation sequencing datasets

5. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

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2. Long-read Sequencing for Germline Pharmacogenomic Testing;Advances in Molecular Pathology;2023-11

3. Long-Read DNA Sequencing: Recent Advances and Remaining Challenges;Annual Review of Genomics and Human Genetics;2023-08-25

4. HiPhase: Jointly phasing small and structural variants from HiFi sequencing;2023-05-04

5. Allele-specific polymerase chain reaction can determine the diplotype of NUDT15 variants in patients with childhood acute lymphoblastic Leukemia;Scientific Reports;2023-01-10