E-LIB Suche - Ergebnisse für: Rowell, William J.

1

O36: Long-read genome sequencing in unsolved rare genetic d..:

Del Gobbo, Giulia ; Couse, Madeline ; Lambert, Christine...
Genetics in Medicine Open. 2 (2024) - p. 101474 , 2024

Link: https://doi.org/10.1016/..

2

P821: Long-read sequencing resolves CYP21A2 alleles in cong..:

Délot, Emmanuèle ; Monlong, Jean ; Chen, Xiao...
Genetics in Medicine Open. 2 (2024) - p. 101732 , 2024

Link: https://doi.org/10.1016/..

3

HiPhase: jointly phasing small, structural, and tandem repe..:

Holt, James M ; Saunders, Christopher T ; Rowell, William J...
Bioinformatics. 40 (2024) 2 - p. , 2024

Link: https://doi.org/10.1093/..

4

Direct haplotype-resolved 5-base HiFi sequencing for genome..:

Cheung, Warren A. ; Johnson, Adam F. ; Rowell, William J....
Nature Communications. 14 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

5

Comprehensive de novo mutation discovery with HiFi long-rea..:

Kucuk, Erdi ; van der Sanden, Bart P. G. H. ; O'Gorman, Luke...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Long‐read genome sequencing reveals a novel intronic retroe..:

Del Gobbo, Giulia F. ; Wang, Xueqi ; Couse, Madeline...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023

Link: https://doi.org/10.1002/..

7

Germline mosaicism of a missense variant in KCNC2 in a mult..:

Mehinovic, Elvisa ; Gray, Teddi ; Campbell, Meghan...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 2071-2081 , 2022

Link: https://doi.org/10.1002/..

8

Curated variation benchmarks for challenging medically rele..:

Wagner, Justin ; Olson, Nathan D. ; Harris, Lindsay...
Nature Biotechnology. 40 (2022) 5 - p. 672-680 , 2022

Link: https://doi.org/10.1038/..

9

DeepConsensus improves the accuracy of sequences with a gap..:

Baid, Gunjan ; Cook, Daniel E. ; Shafin, Kishwar...
Nature Biotechnology. , 2022

Link: https://doi.org/10.1038/..

10

A population of descending neurons that regulates the fligh..:

Namiki, Shigehiro ; Ros, Ivo G. ; Morrow, Carmen...
Current Biology. 32 (2022) 5 - p. 1189-1196.e6 , 2022

Link: https://doi.org/10.1016/..

11

Application of long-read sequencing to elucidate complex ph..:

van der Lee, Maaike ; Rowell, William J. ; Menafra, Roberta...
The Pharmacogenomics Journal. 22 (2021) 1 - p. 75-81 , 2021

Link: https://doi.org/10.1038/..

12

Alu element in the RNA binding motif protein, X-linked 2 (R..:

Laine, Pia ; Rowell, William J. ; Paulin, Lars...
PLOS ONE. 16 (2021) 12 - p. e0261170 , 2021

Link: https://doi.org/10.1371/..

13

Clinical application of long-read sequencing in unsolved ra..:

Farrow, Emily ; Miller, Neil ; Thiffault, Isabelle...
Molecular Genetics and Metabolism. 132 (2021) - p. S215-S216 , 2021

Link: https://doi.org/10.1016/..

14

Structural variation and its potential impact on genome ins..:

Cook, George W. ; Benton, Michael G. ; Akerley, Wallace...
PLOS ONE. 15 (2020) 1 - p. e0226340 , 2020

Link: https://doi.org/10.1371/..

15

FEMALE LABOUR FORCE PARTICIPATION IN INDONESIA:: WHY HAS IT..:

, In: Achieving Inclusive Growth in the Asia Pacific,

Cameron, Lisa ; Suarez, Diana Contreras ; Rowell, William - p. 241-278 , 2020

Link: https://doi.org/10.2307/..