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IMPROVING THROUGHPUT OF LONG READS WITH HIGH CONSENSUS BASE ACCURACY TO RESOLVE REPETITIVE DNAS

Award Number: R21HG010548
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 04/23/2019
PERIOD OF PERFORMANCE END DATE: 03/31/2023

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IMPROVING THROUGHPUT OF LONG READS WITH HIGH CONSENSUS BASE ACCURACY TO RESOLVE REPETITIVE DNAS - Project Summary/Abstract Approaches to complete the human genome will benefit from careful, benchmarked advances that demonstrate the capability to fully assemble and phase diploid chromosomes. The remaining unresolved regions in our high-resolution genomic maps are known to contain long tracts of repeats. The long-term objective of our research is to develop new experimental methods to complete chromosome scale assemblies to study the sequence organization, structural diversity, and disease impact of these novel sequences. The goal of this proposal is to develop sequencing methods to improve the sequence throughput of reads that are hundreds of kilobases in length to improve consensus base accuracy, a necessary step to advance assembly efforts into the remaining gapped regions. In our first aim, we demonstrate the use of our approach to generate the first telomere-to-telomere phased assembly of a human chromosome. We hypothesize that this work will be critical to complete other chromosome reference assemblies. In our second aim we present a new approach to target and enrich for long-reads in repetitive DNAs that were previously misrepresented or missing completely in previous reference assemblies. This approach is expected to provide a new cost-effective method of studying genetic variation in these highly variable regions from a large number of individuals. This research has the additional benefit that it will add new sequence to the human genome to systematically explore genetic variation of regions frequently overlooked as part of disease-association studies.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2024 ( Subtotal = -$1,192 )
2024	2020	UNIVERSITY OF CALIFORNIA SANTA CRUZ	1156 HIGH ST	SANTA CRUZ	CA	95064	SANTA CRUZ	USA	Human Genome Research	000	2	12/12/2023	NON-COMPETING CONTINUATION	-$1,192
														Subtotal = -$1,192

Issue Date FY: 2022 ( Subtotal = $0 )
2022	2020	UNIVERSITY OF CALIFORNIA, SANTA CRUZ	1156 HIGH ST	SANTA CRUZ	CA	95064	SANTA CRUZ	USA	Human Genome Research	000	2	4/20/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2020 ( Subtotal = $306,007 )
2020	2020	UNIVERSITY OF CALIFORNIA, SANTA CRUZ	1156 HIGH ST	SANTA CRUZ	CA	95064	SANTA CRUZ	USA	Human Genome Research	000	2	3/12/2020	NON-COMPETING CONTINUATION	$306,007
														Subtotal = $306,007

Issue Date FY: 2019 ( Subtotal = $306,007 )
2019	2019	UNIVERSITY OF CALIFORNIA, SANTA CRUZ	1156 HIGH ST	SANTA CRUZ	CA	95064	SANTA CRUZ	USA	Human Genome Research	000	1	4/23/2019	NEW	$306,007
														Subtotal = $306,007

Grand Total All Awards = $610,822

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IMPROVING THROUGHPUT OF LONG READS WITH HIGH CONSENSUS BASE ACCURACY TO RESOLVE REPETITIVE DNAS

Award Number: R21HG010548

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 04/23/2019

PERIOD OF PERFORMANCE END DATE: 03/31/2023

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