Search details
1.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Cell
; 185(18): 3426-3440.e19, 2022 09 01.
Article
in English
| MEDLINE | ID: mdl-36055201
2.
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring.
EMBO Rep
; 25(2): 593-615, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38228788
3.
The genomic basis of evolutionary differentiation among honey bees.
Genome Res
; 31(7): 1203-1215, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-33947700
4.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Article
in English
| MEDLINE | ID: mdl-36797998
5.
Somatic variant analysis of linked-reads sequencing data with Lancet.
Bioinformatics
; 37(13): 1918-1919, 2021 07 27.
Article
in English
| MEDLINE | ID: mdl-33241313
6.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Article
in English
| MEDLINE | ID: mdl-34256850
7.
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
8.
Feather Gene Expression Elucidates the Developmental Basis of Plumage Iridescence in African Starlings.
J Hered
; 112(5): 417-429, 2021 08 25.
Article
in English
| MEDLINE | ID: mdl-33885791
9.
YES1 amplification is a mechanism of acquired resistance to EGFR inhibitors identified by transposon mutagenesis and clinical genomics.
Proc Natl Acad Sci U S A
; 115(26): E6030-E6038, 2018 06 26.
Article
in English
| MEDLINE | ID: mdl-29875142
10.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28887402
11.
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Bioinformatics
; 35(22): 4754-4756, 2019 11 01.
Article
in English
| MEDLINE | ID: mdl-31134279
12.
The contribution of de novo coding mutations to autism spectrum disorder.
Nature
; 515(7526): 216-21, 2014 Nov 13.
Article
in English
| MEDLINE | ID: mdl-25363768
13.
Accurate de novo and transmitted indel detection in exome-capture data using microassembly.
Nat Methods
; 11(10): 1033-6, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25128977
14.
Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies.
Brief Bioinform
; 14(2): 213-24, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-22199379
15.
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.
medRxiv
; 2024 Mar 26.
Article
in English
| MEDLINE | ID: mdl-38585974
16.
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Nat Neurosci
; 26(1): 150-162, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36482247
17.
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring.
bioRxiv
; 2023 Aug 14.
Article
in English
| MEDLINE | ID: mdl-37645714
18.
Scoring-and-unfolding trimmed tree assembler: concepts, constructs and comparisons.
Bioinformatics
; 27(2): 153-60, 2011 Jan 15.
Article
in English
| MEDLINE | ID: mdl-21088026
19.
TotalReCaller: improved accuracy and performance via integrated alignment and base-calling.
Bioinformatics
; 27(17): 2330-7, 2011 Sep 01.
Article
in English
| MEDLINE | ID: mdl-21724593
20.
Benchmarking challenging small variants with linked and long reads.
Cell Genom
; 2(5)2022 May.
Article
in English
| MEDLINE | ID: mdl-36452119