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Utilizing long-read sequencing to resolve inconclusive diagnoses and uncertainty in genetic testing

Award Number: R01HG013355
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 04/01/2024
PERIOD OF PERFORMANCE END DATE: 01/31/2028

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Utilizing long-read sequencing to resolve inconclusive diagnoses and uncertainty in genetic testing - Abstract We propose to use third generation, long-read sequencing (LRS) to resolve inconclusive diagnoses and maximize the diagnostic yield in patients with suspected Mendelian disorders. The diagnostic yield of whole exome and genome sequencing stands at 40-50% including a significant proportion of patients receiving an inconclusive diagnosis. The limitations of the current short-read technologies can be attributed to the negative and inconclusive molecular diagnoses that prevent us from maximizing the diagnostic yield. Also, the vast majority of the patients undergo a long diagnostic odyssey due to the practice of sequential testing paradigm. In the proposed study, we will perform LRS in a cohort of patients with heterogenous pediatric disorders to resolve a) inconclusive diagnoses in patients with a single disease associated variant in an autosomal recessive disorder gene, and two disease associated variants in the same gene with unknown phase, and b) variants of uncertain significance or variant of unknown parent-of-origin in patients with epigenetic or imprinting disorder. We will determine the diagnostic utility of LRS and its impact on uncertainty in diagnoses against the current standard of care exome/ genome sequencing. We will build upon the existing resources of our clinical lab and our own cutting-edge genomic and bioinformatic capabilities. We anticipate that our studies will contribute new knowledge about the increased diagnostic yield from resolution of inconclusive diagnoses and lead to the faster adoption of long-reads in clinical settings.


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: 2026 ( Subtotal = $445,000 )
2026	2026	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	000	3	2/26/2026	NON-COMPETING CONTINUATION	$445,000
														Subtotal = $445,000

Issue Date FY: 2025 ( Subtotal = $445,000 )
2025	2025	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	001	2	4/24/2025	NON-COMPETING CONTINUATION	$44,500
2025	2025	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	000	2	3/20/2025	NON-COMPETING CONTINUATION	$400,500
														Subtotal = $445,000

Issue Date FY: 2024 ( Subtotal = $445,000 )
2024	2024	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	000	1	4/1/2024	NEW	$400,500
2024	2024	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Human Genome Research	001	1	8/6/2024	NEW	$44,500
														Subtotal = $445,000

Grand Total All Awards = $1,335,000

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Utilizing long-read sequencing to resolve inconclusive diagnoses and uncertainty in genetic testing

Award Number: R01HG013355

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 04/01/2024

PERIOD OF PERFORMANCE END DATE: 01/31/2028

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