News, DPC Business Insight, Patient & Physician Edu. | t: (770) 455-1650 | editor@directprimarycare.com

GENE SEQ. | Nanopore sequencing and assembly of a human genome with ultra-long reads [Abstract]

Join 2,790 other followers

By Nature Biotechnology | doi:10.1038/nbt.4060

Learn More about WHOLE GENOME SEQUENCING Test Kit, Reports, and Ordering Kits Here …

Received:

Accepted:
Published online:

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb of sequence data, representing 30× theoretical coverage, were produced. Reference-based alignment enabled detection of large structural variants and epigenetic modifications. De novo assembly of nanopore reads alone yielded a contiguous assembly (NG50 3 Mb). We developed a protocol to generate ultra-long reads (N50 > 100 kb, read lengths up to 882 kb). Incorporating an additional 5× coverage of these ultra-long reads more than doubled the assembly contiguity (NG50 6.4 Mb). The final assembled genome was 2,867 million bases in size, covering 85.8% of the reference. Assembly accuracy, after incorporating complementary short-read sequencing data, exceeded 99.8%. Ultra-long reads enabled assembly and phasing of the 4-Mb major histocompatibility complex (MHC) locus in its entirety, measurement of telomere repeat length, and closure of gaps in the reference human genome assembly GRCh38.

CONTINUE READING FULL ARTICLE …

SOURCE: https://www.nature.com/articles/nbt.4060

Advertisements

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

w

Connecting to %s

DPC Journal Edu. Author’s Corner | Download …

DPC Journal | Job Board

Insights | Analysis | Latest Trends

(C) 2016, 2017, 2018 | The DPC Journal

Scalability & Startup In DPC

(C) 2017 | The Direct Primary Care Journal - All Rights Reserved. Click to enlarge ...

FOR DPC | Unique Offer For DPC Journal Readers in 2018

The DPC Journal Strategic Partnership with Unique Pediatric & Family Medicine/Ortho. -- “Invented by a mom who spent enough hours in the pediatrician’s office to know that keeping kids calm and occupied would make doctor’s visits easier on everyone …”

Free Shipping, New Bundle!

Different Opinions | Insights | Analysis | Trends

(c) 2017 The Direct Primary Care Journal (The DPC Journal)

Join 2,790 other followers

Popular Audio Downloads | Podcasts

Click here to listen to DPC Podcast, Innovations in the Delivery of Medicine and More Interviews ...

Insights | Analysis | Latest Trends

© 2017 The DPC Journal

%d bloggers like this: