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Aganezov et al., 2021 - Google Patents

A complete human reference genome improves variant calling for population and clinical genomics

Aganezov et al., 2021

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Document ID
6073811956108864841
Author
Aganezov S
Yan S
Soto D
Kirsche M
Zarate S
Avdeyev P
Taylor D
Shafin K
Shumate A
Xiao C
Wagner J
McDaniel J
Olson N
Sauria M
Vollger M
Rhie A
Meredith M
Martin10 S
Koren S
Rosenfeld11 J
Paten B
Layer10 R
Chin12 C
Sedlazeck13 F
Hansen14 N
Miller D
Phillippy A
Miga K
McCoy R
Dennis M
Zook J
Schatz M
Publication year
Publication venue
bioRxiv (to appear)

External Links

Snippet

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 Mbp of sequence, corrects thousands of structural errors, and unlocks the most complex regions of the genome to clinical and functional study. Here we demonstrate how the new …
Continue reading at tsapps.nist.gov (PDF) (other versions)

Classifications

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    • G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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    • C12Q1/6869—Methods for sequencing

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