High throughput sequencing approaches to mutation discovery in the mouse

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Contiguous mutation syndrome in the era of high-throughput sequencing

We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (AP4) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual disability speech delay, microcephaly, and growth retardation. Yet, both children also presented...

متن کامل

Add-on for High Throughput Screening in Material Discovery for Organic Electronics: “Tagging” Molecules to Address the Device Considerations

This work reflects the worth of intelligent modeling in controlling the nanostructure morphology in manufacturing organic bulk heterojunction (BHJ) solar cells. It suggests the idea of screening the pool of material design possibilities inspired by machine learning. To fulfill this goal, a set of experimental data on a BHJ solar cell with a donor structure of diketopyrrolopyrrole (DDP) and ...

متن کامل

mirTools: microRNA profiling and discovery based on high-throughput sequencing

miRNAs are small, non-coding RNA that negatively regulate gene expression at post-transcriptional level, which play crucial roles in various physiological and pathological processes, such as development and tumorigenesis. Although deep sequencing technologies have been applied to investigate various small RNA transcriptomes, their computational methods are far away from maturation as compared t...

متن کامل

Genome variation discovery with high-throughput sequencing data

The advent of high-throughput sequencing (HTS) technologies is enabling sequencing of human genomes at a significantly lower cost. The availability of these genomes is hoped to enable novel medical diagnostics and treatment, specific to the individual, thus launching the era of personalized medicine. The data currently generated by HTS machines require extensive computational analysis in order ...

متن کامل

High-throughput sequencing technologies.

The human genome sequence has profoundly altered our understanding of biology, human diversity, and disease. The path from the first draft sequence to our nascent era of personal genomes and genomic medicine has been made possible only because of the extraordinary advancements in DNA sequencing technologies over the past 10 years. Here, we discuss commonly used high-throughput sequencing platfo...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Mammalian Genome

سال: 2012

ISSN: 0938-8990,1432-1777

DOI: 10.1007/s00335-012-9424-0