[HTML][HTML] Recent advances in the detection of repeat expansions with short-read next-generation sequencing
M Bahlo, MF Bennett, P Degorski, RM Tankard… - …, 2018 - ncbi.nlm.nih.gov
Short tandem repeats (STRs), also known as microsatellites, are commonly defined as
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
consisting of tandemly repeated nucleotide motifs of 2–6 base pairs in length. STRs appear …
Clinical sequencing: from raw data to diagnosis with lifetime value
SM Caspar, N Dubacher, AM Kopps… - Clinical …, 2018 - Wiley Online Library
High‐throughput sequencing (HTS) has revolutionized genetics by enabling the detection of
sequence variants at hitherto unprecedented large scale. Despite these advances, however …
sequence variants at hitherto unprecedented large scale. Despite these advances, however …
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease
MTW Ebbert, SL Farrugia, JP Sens… - Molecular …, 2018 - Springer
Background Many neurodegenerative diseases are caused by nucleotide repeat
expansions, but most expansions, like the C9orf72 'GGGGCC'(G 4 C 2) repeat that causes …
expansions, but most expansions, like the C9orf72 'GGGGCC'(G 4 C 2) repeat that causes …
Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data
RM Tankard, MF Bennett, P Degorski… - The American Journal of …, 2018 - cell.com
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic.
These can present with overlapping clinical phenotypes, making molecular diagnosis …
These can present with overlapping clinical phenotypes, making molecular diagnosis …
[PDF][PDF] Repeat expansion and methylation state analysis with nanopore sequencing 2
P Gießelmann, B Brändl, E Raimondeau, R Bowen - researchgate.net
Repeat expansion and methylation state analysis with nanopore sequencing Page 1 1 Repeat
expansion and methylation state analysis with nanopore 1 sequencing 2 Pay Gießelmann §1 …
expansion and methylation state analysis with nanopore 1 sequencing 2 Pay Gießelmann §1 …