Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
about
A survey of localized sequence rearrangements in human DNA.Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.Settling the score: variant prioritization and Mendelian disease.NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data.Role of genomics in promoting the utilization of plant genetic resources in genebanks.Accurate detection of complex structural variations using single-molecule sequencingLong-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosisLong reads: their purpose and placeAutosomal dominant intellectual disability
P2860
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P2860
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
description
2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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name
Long-read genome sequencing id ...... iation in a Mendelian disease.
@en
Long-read genome sequencing id ...... iation in a Mendelian disease.
@nl
type
label
Long-read genome sequencing id ...... iation in a Mendelian disease.
@en
Long-read genome sequencing id ...... iation in a Mendelian disease.
@nl
prefLabel
Long-read genome sequencing id ...... iation in a Mendelian disease.
@en
Long-read genome sequencing id ...... iation in a Mendelian disease.
@nl
P2093
P2860
P50
P356
P1433
P1476
Long-read genome sequencing id ...... iation in a Mendelian disease.
@en
P2093
Aaron M Wenger
Christine C Lambert
Daryl Waggott
Euan A Ashley
James Ford
Jason D Merker
Jillian G Buchan
Jonas Korlach
Kevin S Eng
Kevin S Smith
P2860
P2888
P304
P356
10.1038/GIM.2017.86
P407
P577
2017-06-22T00:00:00Z