Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities
The goal of sequencing the entire human genome for $1000 is almost in sight. However, the
total costs including DNA sequencing, data management, and analysis to yield a clear data …
total costs including DNA sequencing, data management, and analysis to yield a clear data …
[HTML][HTML] Mobile element scanning (ME-Scan) by targeted high-throughput sequencing
DJ Witherspoon, J Xing, Y Zhang, WS Watkins… - BMC genomics, 2010 - Springer
Abstract Background Mobile elements (MEs) are diverse, common and dynamic inhabitants
of nearly all genomes. ME transposition generates a steady stream of polymorphic genetic …
of nearly all genomes. ME transposition generates a steady stream of polymorphic genetic …
System and method for cleaning noisy genetic data and determining chromosome copy number
M Rabinowitz, M Banjevic, Z Demko… - US Patent …, 2019 - Google Patents
Disclosed herein is a system and method for increasing the fidelity of measured genetic
data, for making allele calls, and for determining the state of aneuploidy, in one or a small …
data, for making allele calls, and for determining the state of aneuploidy, in one or a small …
Method for improving sequence coverage uniformity of targeted genomic intervals amplified by LR-PCR using Illumina GA sequencing-by-synthesis technology
O Harismendy, KA Frazer - Biotechniques, 2009 - Taylor & Francis
One approach for high-throughput population-based sequencing of targeted intervals in the
human genome is to amplify the regions using long-range PCR (LR-PCR) followed by …
human genome is to amplify the regions using long-range PCR (LR-PCR) followed by …
A targeted enrichment strategy for massively parallel sequencing of angiosperm plastid genomes
• Premise of the study: We explored a targeted enrichment strategy to facilitate rapid and low‐
cost next‐generation sequencing (NGS) of numerous complete plastid genomes from across …
cost next‐generation sequencing (NGS) of numerous complete plastid genomes from across …
Methods for non-invasive prenatal ploidy calling
M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2022 - Google Patents
The present disclosure provides methods for determining the ploidy status of a chromosome
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …
[HTML][HTML] A method for generating highly multiplexed ChIP-seq libraries
Background The barcoding of next generation sequencing libraries has become an
essential part of the experimental design. Barcoding not only allows the sequencing of more …
essential part of the experimental design. Barcoding not only allows the sequencing of more …
[HTML][HTML] Large scale loss of data in low-diversity illumina sequencing libraries can be recovered by deferred cluster calling
F Krueger, SR Andrews, CS Osborne - PloS one, 2011 - journals.plos.org
Massively parallel DNA sequencing is capable of sequencing tens of millions of DNA
fragments at the same time. However, sequence bias in the initial cycles, which are used to …
fragments at the same time. However, sequence bias in the initial cycles, which are used to …
Safe sequencing system
B Vogelstein, KW Kinzler, N Papadopoulos… - US Patent …, 2016 - Google Patents
Error rates in massively parallel sequencing instruments are generally too high to allow
confident identification of rare variants. An approach that can substantially increase the …
confident identification of rare variants. An approach that can substantially increase the …
[HTML][HTML] High-throughput multilocus sequence typing: bringing molecular typing to the next level
SA Boers, WA Van der Reijden, R Jansen - PloS one, 2012 - journals.plos.org
Multilocus sequence typing (MLST) is a widely used system for typing microorganisms by
sequence analysis of housekeeping genes. The main advantage of MLST in comparison to …
sequence analysis of housekeeping genes. The main advantage of MLST in comparison to …