Digenic inheritance in medical genetics

AA Schäffer - Journal of medical genetics, 2013 - jmg.bmj.com
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases.
By contrast with the thousands of reports that mutations in single genes cause human …

Reference-based phasing using the Haplotype Reference Consortium panel

PR Loh, P Danecek, PF Palamara, C Fuchsberger… - Nature …, 2016 - nature.com
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing is
generally performed via statistical phasing in a genotyped cohort, an approach that can yield …

WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads

M Patterson, T Marschall, N Pisanti… - Journal of …, 2015 - liebertpub.com
The human genome is diploid, which requires assigning heterozygous single nucleotide
polymorphisms (SNPs) to the two copies of the genome. The resulting haplotypes, lists of …

[HTML][HTML] Genome-wide identification of agronomically important genes in outcrossing crops using OutcrossSeq

M Chen, W Fan, F Ji, H Hua, J Liu, M Yan, Q Ma, J Fan… - Molecular plant, 2021 - cell.com
Many important crops (eg, tuber, root, and tree crops) are cross-pollinating. For these crops,
no inbred lines are available for genetic study and breeding because they are self …

Discovering genes involved in disease and the mystery of missing heritability

E Eskin - Communications of the ACM, 2015 - dl.acm.org
Discovering genes involved in disease and the mystery of missing heritability Page 1 80
COMMUNICATIONS OF THE ACM | OCTOBER 2015 | VOL. 58 | NO. 10 review articles DOI:10.1145/2817827 …

HapCol: accurate and memory-efficient haplotype assembly from long reads

Y Pirola, S Zaccaria, R Dondi, GW Klau, N Pisanti… - …, 2016 - academic.oup.com
Motivation: Haplotype assembly is the computational problem of reconstructing haplotypes
in diploid organisms and is of fundamental importance for characterizing the effects of single …

WhatsHap: Haplotype Assembly for Future-Generation Sequencing Reads

M Patterson, T Marschall, N Pisanti, L van Iersel… - … PA, USA, April 2-5, 2014 …, 2014 - Springer
The human genome is diploid, that is each of its chromosomes comes in two copies. This
requires to phase the single nucleotide polymorphisms (SNPs), that is, to assign them to the …

[HTML][HTML] Sparse tensor decomposition for haplotype assembly of diploids and polyploids

A Hashemi, B Zhu, H Vikalo - BMC genomics, 2018 - Springer
Background Haplotype assembly is the task of reconstructing haplotypes of an individual
from a mixture of sequenced chromosome fragments. Haplotype information enables studies …

Building a genome analysis pipeline to predict disease risk and prevent disease

Y Bromberg - Journal of molecular biology, 2013 - Elsevier
Reduced costs and increased speed and accuracy of sequencing can bring the genome-
based evaluation of individual disease risk to the bedside. While past efforts have identified …

[HTML][HTML] Parameterized complexity analysis for the closest string with wildcards problem

D Hermelin, L Rozenberg - Theoretical Computer Science, 2015 - Elsevier
Abstract The Closest String problem asks to find a string s which is not too far from each
string in a set of m input strings, where the distance is taken as the Hamming distance. This …