Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
Sequencing pools of individuals—mining genome-wide polymorphism data without big funding
The analysis of polymorphism data is becoming increasingly important as a complementary
tool to classical genetic analyses. Nevertheless, despite plunging sequencing costs …
tool to classical genetic analyses. Nevertheless, despite plunging sequencing costs …
Synonymous mutations in representative yeast genes are mostly strongly non-neutral
Synonymous mutations in protein-coding genes do not alter protein sequences and are thus
generally presumed to be neutral or nearly neutral,,,–. Here, to experimentally verify this …
generally presumed to be neutral or nearly neutral,,,–. Here, to experimentally verify this …
[HTML][HTML] Inflammatory bowel disease: genetics, epigenetics, and pathogenesis
Inflammatory bowel diseases (IBDs) are complex, multifactorial disorders characterized by
chronic relapsing intestinal inflammation. Although etiology remains largely unknown, recent …
chronic relapsing intestinal inflammation. Although etiology remains largely unknown, recent …
[HTML][HTML] The next-generation sequencing revolution and its impact on genomics
Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …
technology. As technology has improved the cost and scale of genome characterization over …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
Next-generation diagnostics and disease-gene discovery with the Exomiser
Exomiser is an application that prioritizes genes and variants in next-generation sequencing
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …
(NGS) projects for novel disease-gene discovery or differential diagnostics of Mendelian …
A survey of tools for variant analysis of next-generation genome sequencing data
S Pabinger, A Dander, M Fischer… - Briefings in …, 2014 - academic.oup.com
Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome …
Next-generation sequencing is changing the paradigm of clinical genetic testing. Today
there are numerous molecular tests available, including single-gene tests, gene panels, and …
there are numerous molecular tests available, including single-gene tests, gene panels, and …
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …
the genetic diagnosis and research of rare diseases that involve a large number of genes …