相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly
Marilena Melas et al.
HUMAN MUTATION (2022)
Long-read trio sequencing of individuals with unsolved intellectual disability
Marc Pauper et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
Takeshi Mizuguchi et al.
GENOMICS (2021)
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Jonathan R. Belyeu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Twelve years of SAMtools and BCFtools
Petr Danecek et al.
GIGASCIENCE (2021)
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Bart P. G. H. van der Sanden et al.
GENETICS IN MEDICINE (2021)
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
Mariangela Sabatella et al.
JOURNAL OF PATHOLOGY (2021)
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Brent S. Pedersen et al.
NPJ GENOMIC MEDICINE (2021)
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Zeinab Fadaie et al.
HUMAN GENETICS AND GENOMICS ADVANCES (2021)
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads
Mitchell R. Vollger et al.
ANNALS OF HUMAN GENETICS (2020)
Long-read human genome sequencing and its applications
Glennis A. Logsdon et al.
NATURE REVIEWS GENETICS (2020)
Best practices for variant calling in clinical sequencing
Daniel C. Koboldt
GENOME MEDICINE (2020)
Highly accurate long-read HiFi sequencing data for five complex genomes
Ting Hon et al.
SCIENTIFIC DATA (2020)
Long-Read Sequencing Emerging in Medical Genetics
Tuomo Mantere et al.
FRONTIERS IN GENETICS (2019)
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
Aaron M. Wenger et al.
NATURE BIOTECHNOLOGY (2019)
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight
Mark T. W. Ebbert et al.
GENOME BIOLOGY (2019)
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D. Merker et al.
GENETICS IN MEDICINE (2018)
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion
Jennifer Reiner et al.
NPJ GENOMIC MEDICINE (2018)
A universal SNP and small-indel variant caller using deep neural networks
Ryan Poplin et al.
NATURE BIOTECHNOLOGY (2018)
Detection of structural mosaicism from targeted and whole-genome sequencing data
Daniel A. King et al.
GENOME RESEARCH (2017)
Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data
Konstantin Okonechnikov et al.
BIOINFORMATICS (2016)
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Xiaoyu Chen et al.
BIOINFORMATICS (2016)
Canvas: versatile and scalable detection of copy number variants
Eric Roller et al.
BIOINFORMATICS (2016)
De novo assembly and phasing of a Korean human genome
Jeong-Sun Seo et al.
NATURE (2016)
Parent-of-origin-specific signatures of de novo mutations
Jakob M. Goldmann et al.
NATURE GENETICS (2016)
New insights into the generation and role of de novo mutations in health and disease
Rocio Acuna-Hidalgo et al.
GENOME BIOLOGY (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Rocio Acuna-Hidalgo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing
Brock A. Peters et al.
GENOME RESEARCH (2015)
WHATSHAP: Weighted Haplotype Assembly for Future-Generation Sequencing Reads
Murray Patterson et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Repbase Update, a database of repetitive elements in eukaryotic genomes
Weidong Bao et al.
MOBILE DNA (2015)
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Laurent C. Francioli et al.
NATURE GENETICS (2014)
GENCODE: The reference human genome annotation for The ENCODE Project
Jennifer Harrow et al.
GENOME RESEARCH (2012)
Rate of de novo mutations and the importance of father's age to disease risk
Augustine Kong et al.
NATURE (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
The variant call format and VCFtools
Petr Danecek et al.
BIOINFORMATICS (2011)
Clan Genomics and the Complex Architecture of Human Disease
James R. Lupski et al.
CELL (2011)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping
Can Alkan et al.
NATURE REVIEWS GENETICS (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)