… CHM13hTERT cells were obtained for research use through a material transfer agreement
with U. Surti and the University of Pittsburgh. The raw sequencing data were described in …

… Author links open overlay panel Lori Hoffner a , Urvashi Surti a b … be found in Ford et al.,
1986 (24); Weaver et al., 2000 (25); Surti et al., 2005 (27); Robinson et al., 2007 (29); Sunde et al…

The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …

… The specimen was next placed in FlO medium plus 20 per cent fetal calf serum and
antibiotics: 500 U. per milliliter penicillin; 500 pg per milliliter streptomycin; 125 Fg per milliliter …

After two decades of improvements, the current human reference genome (GRCh38) is the
most accurate and complete vertebrate genome ever produced. However, no single …

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Genetic studies aimed at understanding the molecular basis of complex human phenotypes
require the genotyping of many thousands of single-nucleotide polymorphisms (SNPs) …

Hydatidiform moles studied with respect to cytogenetics and morphologic constitution were
divisible into two syndromes: (1) complete, classical mole giving a 46 XX karyotype and (2) …

The complete assembly of each human chromosome is essential for understanding human
biology and evolution 1 , 2 . Here we use complementary long-read sequencing …

Autism spectrum disorders (ASD) and schizophrenia are neurodevelopmental disorders for
which recent evidence indicates an important etiologic role for rare copy number variants (…