Search details
1.
HiPhase: jointly phasing small, structural, and tandem repeat variants from HiFi sequencing.
Bioinformatics
; 40(2)2024 02 01.
Article
in English
| MEDLINE | ID: mdl-38269623
2.
A crowdsourced set of curated structural variants for the human genome.
PLoS Comput Biol
; 16(6): e1007933, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32559231
3.
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Ann Hum Genet
; 84(2): 125-140, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31711268
4.
Independent erosion of conserved transcription factor binding sites points to shared hindlimb, vision and external testes loss in different mammals.
Nucleic Acids Res
; 46(18): 9299-9308, 2018 10 12.
Article
in English
| MEDLINE | ID: mdl-30137416
5.
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Genet Med
; 21(2): 464-470, 2019 02.
Article
in English
| MEDLINE | ID: mdl-29997393
6.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Genet Med
; 20(1): 159-163, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-28640241
7.
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Am J Med Genet A
; 176(4): 1030-1036, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29575631
8.
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain
; 140(10): 2610-2622, 2017 Oct 01.
Article
in English
| MEDLINE | ID: mdl-28969385
9.
Microbiota modulate transcription in the intestinal epithelium without remodeling the accessible chromatin landscape.
Genome Res
; 24(9): 1504-16, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24963153
10.
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Genet Med
; 19(2): 209-214, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27441994
11.
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
Nature
; 471(7337): 216-9, 2011 Mar 10.
Article
in English
| MEDLINE | ID: mdl-21390129
12.
PRISM offers a comprehensive genomic approach to transcription factor function prediction.
Genome Res
; 23(5): 889-904, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23382538
13.
The enhancer landscape during early neocortical development reveals patterns of dense regulation and co-option.
PLoS Genet
; 9(8): e1003728, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-24009522
14.
Coding exons function as tissue-specific enhancers of nearby genes.
Genome Res
; 22(6): 1059-68, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22442009
15.
Automated discovery of tissue-targeting enhancers and transcription factors from binding motif and gene function data.
PLoS Comput Biol
; 10(1): e1003449, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24499934
16.
Computational methods to detect conserved non-genic elements in phylogenetically isolated genomes: application to zebrafish.
Nucleic Acids Res
; 41(15): e151, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23814184
17.
Human developmental enhancers conserved between deuterostomes and protostomes.
PLoS Genet
; 8(8): e1002852, 2012.
Article
in English
| MEDLINE | ID: mdl-22876195
18.
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer.
Nat Biotechnol
; 41(2): 232-238, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36050551
19.
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Genome Med
; 15(1): 34, 2023 05 08.
Article
in English
| MEDLINE | ID: mdl-37158973
20.
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Nat Commun
; 14(1): 3090, 2023 05 29.
Article
in English
| MEDLINE | ID: mdl-37248219