William J Rowell
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Explore the profile of William J Rowell including associated specialties, affiliations and a list of published articles.
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19
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1546
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Recent Articles
1.
Monlong J, Chen X, Barseghyan H, Rowell W, Negi S, Nokoff N, et al.
medRxiv
. 2025 Feb;
PMID: 39990550
Congenital Adrenal Hyperplasia (CAH), one of the most common inherited disorders, is caused by defects in adrenal steroidogenesis. It is potentially lethal if untreated and is associated with multiple comorbidities,...
2.
Porubsky D, Dashnow H, Sasani T, Logsdon G, Hallast P, Noyes M, et al.
bioRxiv
. 2024 Aug;
PMID: 39149261
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess...
3.
Holt J, Saunders C, Rowell W, Kronenberg Z, Wenger A, Eberle M
Bioinformatics
. 2024 Jan;
40(2).
PMID: 38269623
Motivation: In diploid organisms, phasing is the problem of assigning the alleles at heterozygous variants to one of two haplotypes. Reads from PacBio HiFi sequencing provide long, accurate observations that...
4.
Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell W, et al.
Nat Biotechnol
. 2024 Jan;
42(10):1606-1614.
PMID: 38168995
Tandem repeat (TR) variation is associated with gene expression changes and numerous rare monogenic diseases. Although long-read sequencing provides accurate full-length sequences and methylation of TRs, there is still a...
5.
Del Gobbo G, Wang X, Couse M, Mackay L, Goldsmith C, Marshall A, et al.
Am J Med Genet A
. 2023 Dec;
194(5):e63522.
PMID: 38131126
Despite significant advancements in rare genetic disease diagnostics, many patients with rare genetic disease remain without a molecular diagnosis. Novel tools and methods are needed to improve the detection of...
6.
Cheung W, Johnson A, Rowell W, Farrow E, Hall R, Cohen A, et al.
Nat Commun
. 2023 May;
14(1):3090.
PMID: 37248219
Long-read HiFi genome sequencing allows for accurate detection and direct phasing of single nucleotide variants, indels, and structural variants. Recent algorithmic development enables simultaneous detection of CpG methylation for analysis...
7.
Kucuk E, van der Sanden B, OGorman L, Kwint M, Derks R, Wenger A, et al.
Genome Med
. 2023 May;
15(1):34.
PMID: 37158973
Background: Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short...
8.
Wagner J, Olson N, Harris L, Khan Z, Farek J, Mahmoud M, et al.
Cell Genom
. 2022 Dec;
2(5).
PMID: 36452119
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use accurate linked and long reads to...
9.
Baid G, Cook D, Shafin K, Yun T, Llinares-Lopez F, Berthet Q, et al.
Nat Biotechnol
. 2022 Sep;
41(2):232-238.
PMID: 36050551
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates long (10-25 kilobases), accurate 'HiFi' reads by combining serial observations of a DNA molecule into a consensus sequence. The standard approach...
10.
Cohen A, Farrow E, Abdelmoity A, Alaimo J, Amudhavalli S, Anderson J, et al.
Genet Med
. 2022 Mar;
24(6):1336-1348.
PMID: 35305867
Purpose: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program. Methods: Extensive analyses of 960 families...