scholarly journals Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation inPOMGNT1to Autosomal Recessive Retinitis Pigmentosa

2016 ◽  
Vol 57 (8) ◽  
pp. 3601 ◽  
Author(s):  
Nana Hsiang-Hua Wang ◽  
Shih-Jen Chen ◽  
Chi-Fan Yang ◽  
Hui-Wen Chen ◽  
Hui-Ping Chuang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Whole Genome Sequencing ◽  
Missense Mutation ◽  
Genome Sequencing ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Whole Genome

scholarly journals Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing

Development ◽  
2012 ◽  
Vol 139 (22) ◽  
pp. 4280-4290 ◽  
Author(s):  
N. Obholzer ◽  
I. A. Swinburne ◽  
E. Schwab ◽  
A. V. Nechiporuk ◽  
T. Nicolson ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Positional Cloning ◽  
Homozygosity Mapping ◽  
Whole Genome

scholarly journals Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34671 ◽  
Author(s):  
Marianne L. Voz ◽  
Wouter Coppieters ◽  
Isabelle Manfroid ◽  
Ariane Baudhuin ◽  
Virginie Von Berg ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Homozygosity Mapping ◽  
Whole Genome ◽  
Induced Mutation

scholarly journals Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
María González-del Pozo ◽  
Elena Fernández-Suárez ◽  
Marta Martín-Sánchez ◽  
Nereida Bravo-Gil ◽  
Cristina Méndez-Vidal ◽  
...  
Keyword(s):  
Open Access ◽  
Retinitis Pigmentosa ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Recessive Inheritance ◽  
Sequencing Algorithm ◽  
Complex Cases

Identification of Recurring Tumor-Specific Somatic Mutations In Acute Myeloid Leukemia by Transcriptome Sequencing.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 1059-1059
Author(s):  
Philipp A Greif ◽  
Sebastian H Eck ◽  
Nikola Konstandin ◽  
Anna Benet-Pages ◽  
Annika Dufour ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Missense Mutation ◽  
Genome Sequencing ◽  
Transcriptome Sequencing ◽  
Somatic Mutations ◽  
Read Depth ◽  
Whole Genome ◽  
Putative Tumor Suppressor Gene ◽  
Average Read Depth ◽  
Acute Myeloid

Abstract Abstract 1059 Aims: Genetic lesions are crucial for cancer initiation. Recently, whole genome sequencing using next generation technology was used as a systematic approach to identify mutations in genomes of various types of tumors including melanoma, lung and breast cancer as well as cytognetically normal acute myeloid leukaemia (CN-AML). Despite its technical feasibility, whole genome sequencing is still time consuming and cost intensive. As an alternative approach, here we identify tumor-specific somatic mutations by sequencing transcriptionally active genes. Methods: Mutations were detected by comparing the transcriptome sequence of a CN-AML with the corresponding remission sample. In a single Genome Analyzer II run, we generated 4.35 Gbp of CN-AML and 5.54 of remission transcriptome sequence from the same patient. 63% of AML reads and 74% of remission reads mapped to exon regions. 10,152 genes had an average read depth of at least 7-fold and 6,989 genes an average read depth of 20 or greater in both samples. By comparing the 8,978 coding Single Nucleotide Variants (SNVs) discovered in the CN-AML sample with the remission sample, we identified 5 non-synonymous mutations specific to the tumor sample. Results: We found 5 tumor-specific somatic mutations. Among them is a nonsense mutation affecting the RUNX1 gene, which is a frequent mutational target in AML, and a missense mutation in the putative tumor suppressor gene TLE4, which encodes a RUNX1 interacting protein. A second missense mutation was identified in SHKBP1, which acts downstream of FLT3, a receptor tyrosine kinase mutated in about 30% of AML cases. The frequency of mutations in TLE4 and SHKBP1 in a cohort of 95 CN-AML patients was 2%. Conclusion: Our study demonstrates that whole transcriptome sequencing leads to the rapid detection of recurring point mutations in the coding regions of genes relevant to malignant transformation. Disclosures: No relevant conflicts of interest to declare.

Sign in / Sign up

Export Citation Format

Share Document