Sequencing studies in human genetics: design and interpretation
DB Goldstein, A Allen, J Keebler, EH Margulies… - Nature Reviews …, 2013 - nature.com
Next-generation sequencing is becoming the primary discovery tool in human genetics.
There have been many clear successes in identifying genes that are responsible for …
There have been many clear successes in identifying genes that are responsible for …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
Whole-genome CNV analysis: advances in computational approaches
M Pirooznia, FS Goes, PP Zandi - Frontiers in genetics, 2015 - frontiersin.org
Accumulating evidence indicates that DNA copy number variation (CNV) is likely to make a
significant contribution to human diversity and also play an important role in disease …
significant contribution to human diversity and also play an important role in disease …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …
generation of sequence data, democratizing the ability to compile information on large …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …
impact the functions of the genes encoded in the genome and are responsible for diverse …
Genome-wide detection of tandem DNA repeats that are expanded in autism
B Trost, W Engchuan, CM Nguyen… - Nature, 2020 - nature.com
Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …
these tandem DNA repeats have been associated with more than 40 monogenic disorders …
scRNA-seq assessment of the human lung, spleen, and esophagus tissue stability after cold preservation
E Madissoon, A Wilbrey-Clark, RJ Miragaia… - Genome biology, 2020 - Springer
Abstract Background The Human Cell Atlas is a large international collaborative effort to
map all cell types of the human body. Single-cell RNA sequencing can generate high-quality …
map all cell types of the human body. Single-cell RNA sequencing can generate high-quality …
Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling, ML Thompson, MD Amaral, CR Finnila… - Genome medicine, 2017 - Springer
Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …